Literature

Cassiman, D., S. Packman, B. Bembi, H. B. Turkia, M. Al-Sayed, M. Schiff, J. Imrie, P. Mabe, T. Takahashi, K. E. Mengel, R. Giugliani, and G. F. Cox.

Cause of Death in PaLents with Chronic Visceral and Chronic Neurovisceral Acid Sphingomyelinase Deficiency (Niemann-Pick Disease Type B and B Variant): Literature Review and Report of New Cases

Cassiman, D., S. Packman, B. Bembi, H. B. Turkia, M. Al-Sayed, M. Schiff, J. Imrie, P. Mabe, T. Takahashi, K. E. Mengel, R. Giugliani, and G. F. Cox.

Corrigendum to "Cause of Death in PaLents with Chronic Visceral and Chronic Neurovisceral Acid Sphingomyelinase Deficiency (Niemann-Pick Disease Type B and B Variant): Literature Review and Report of New Cases

Harzer, K., A. Rolfs, P. Bauer, M. Zschiesche, E. Mengel, J. Backes, B. Kustermann-Kuhn, G. Bruchelt, O. P. van Diggelen, H. Mayrhofer, and I. Krageloh-Mann. 

Niemann-Pick Disease Type a and B Are Clinically but Also EnzymaLcally Heterogeneous: Pihall in the Laboratory Diagnosis of Sphingomyelinase Deficiency Associated with the MutaLon Q292 K.

McGovern, M. M., C. Dionisi-Vici, R. Giugliani, P. Hwu, O. Lidove, Z. Lukacs, K. Eugen Mengel, P. K. Mistry, E. H. Schuchman, and M. P. Wasserstein. 

Consensus RecommendaLon for a DiagnosLc Guideline for Acid Sphingomyelinase Deficiency

McGovern, M. M., M. P. Wasserstein, R. Giugliani, B. Bembi, M. T. Vanier, E. Mengel, S. E. Brodie, D. Mendelson, G. Skloot, R. J. Desnick, N. Kuriyama, and G. F. Cox. 

A ProspecLve, Cross- SecLonal Survey Study of the Natural History of Niemann-Pick Disease Type B

Mendelson, D. S., M. P. Wasserstein, R. J. Desnick, R. Glass, W. Simpson, G. Skloot, M. Vanier, B. Bembi, R. Giugliani, E. Mengel, G. F. Cox, and M. M. McGovern. 

Type B Niemann-Pick Disease: Findings at Chest Radiography, Thin-SecLon Ct, and Pulmonary FuncLon TesLng.

Ries, M., E. Schaefer, T. Luhrs, L. Mani, J. Kuhn, M. T. Vanier, F. Krummenauer, A. Gal, M. Beck, and E. Mengel

CriLcal Assessment of Chitotriosidase Analysis in the RaLonal Laboratory Diagnosis of Children with Gaucher Disease and Niemann-Pick Disease Type a/B and C

Valayannopoulos, V., E. Mengel, A. Brassier, and G. Grabowski.

Lysosomal Acid Lipase Deficiency: Expanding DifferenLal Diagnosis

Van Diggelen, O. P., Y. V. Voznyi, J. L. Keulemans, K. Schoonderwoerd, J. Ledvinova, E. Mengel, M. Zschiesche, R. Santer, and K. Harzer. 

A New Fluorimetric Enzyme Assay for the Diagnosis of Niemann-Pick a/B, with Specificity of Natural Sphingomyelinase Substrate

Vom Dahl, S., and E. Mengel

Lysosomal Storage Diseases as DifferenLal Diagnosis of Hepatosplenomegaly

Wasserstein, M., C. Dionisi-Vici, R. Giugliani, W. L. Hwu, O. Lidove, Z. Lukacs, E. Mengel, P. K. Mistry, E. H. Schuchman, and M. McGovern.

Recommendations for Clinical Monitoring of PaLents with Acid Sphingomyelinase Deficiency (Asmd)

Belmatoug, N., A. Burlina, P. Giraldo, C. J. Hendriksz, D. J. Kuter, E. Mengel, and G. M. Pastores. 

Gastrointestinal Disturbances and Their Management in Miglustat-Treated Patients

Bonnot, O., C. S. Gama, E. Mengel, M. Pineda, M. T. Vanier, L. Watson, M. Watissee, B. Schwierin, and M. C. Patterson. "Psychiatric and Neurological Symptoms in Patients with Niemann-Pick Disease Type C (Np-C).

Psychiatric and Neurological Symptoms in Patients with Niemann-Pick Disease Type C (Np-C): Findings from the International Npc Registry

Bremova, T., V. Malinova, Y. Amraoui, E. Mengel, J. Reinke, M. Kolnikova, and M. Strupp.

Acetyl-Dl-Leucine in Niemann-Pick Type C: A Case Series

Cortina-Borja, M., D. Te Vruchte, E. Mengel, Y. Amraoui, J. Imrie, S. A. Jones, I. Dali C, P. Fineran, T. Kirkegaard, H. Runz, R. Lachmann, T. Bremova-Ertl, M. Strupp, and F. M. Platt.

Annual Severity Increment Score as a Tool for Stratifying Patients with Niemann-Pick Disease Type C and for Recruitment to Clinical Trials.

Geberhiwot, T., A. Moro, A. Dardis, U. Ramaswami, S. Sirrs, M. P. Marfa, M. T. Vanier, M. Walterfang, S. Bolton, C. Dawson, B. Heron, M. Stampfer, J. Imrie, C. Hendriksz, P. Gissen, E. Crushell, M. J. Coll, Y. Nadjar, H. Klunemann, E. Mengel, M. Hrebicek, S. A. Jones, D. Ory, B. Bembi, M. Patterson, and Registry International Niemann-Pick Disease.

Consensus Clinical Management Guidelines for Niemann-Pick Disease Type C

Group, Np- C. Guidelines Working, J. E. Wraith, M. R. Baumgartner, B. Bembi, A. Covanis, T. Levade, E. Mengel, M. Pineda, F. Sedel, M. Topcu, M. T. Vanier, H. Widner, F. A. Wijburg, and M. C. Patterson

Recommendations on the Diagnosis and Management of Niemann-Pick Disease Type C

Maekawa, M., A. Narita, I. Jinnoh, T. Iida, T. Marquardt, E. Mengel, Y. Eto, P. T. Clayton, H. Yamaguchi, and N. Mano

Diagnostic Performance Evaluation of Sulfate-Conjugated Cholesterol Metabolites as Urinary Biomarkers of Niemann-Pick Disease Type C

Mengel, E., H. H. Klunemann, C. M. Lourenco, C. J. Hendriksz, F. Sedel, M. Walterfang, and S. A. Kolb

Niemann-Pick Disease Type C Symptomatology: An Expert-Based Clinical Description

Mengel, E., M. Pineda, C. J. Hendriksz, M. Walterfang, J. V. Torres, and S. A. Kolb

Differences in Niemann-Pick Disease Type C Symptomatology Observed in Patients of Different Ages

Patterson, M. C., E. Mengel, M. T. Vanier, B. Schwierin, A. Muller, P. Cornelisse, M. Pineda, and N. P. C. Registry investigators

Stable or Improved Neurological Manifestations During Miglustat Therapy in Patients from the International Disease Registry for Niemann-Pick Disease Type C: An Observational Cohort Study

Patterson, M. C., E. Mengel, F. A. Wijburg, A. Muller, B. Schwierin, H. Drevon, M. T. Vanier, and M. Pineda.

Disease and Patient Characteristics in Np-C Patients: Findings from an International Disease Registry

Pineda, M., E. Mengel, H. Jahnova, B. Heron, J. Imrie, C. M. Lourenco, V. van der Linden, P. Karimzadeh, V. Valayannopoulos, P. Jesina, J. V. Torres, and S. A. Kolb

A Suspicion Index to Aid Screening of Early-Onset Niemann-Pick Disease Type C (Np-C)

Pineda, M., J. E. Wraith, E. Mengel, F. Sedel, W. L. Hwu, M. Rohrbach, B. Bembi, M. Walterfang, G. C. Korenke, T. Marquardt, C. Luzy, R. Giorgino, and M. C. Patterson

Miglustat in Patients with Niemann-Pick Disease Type C (Np-C): A Multicenter Observational Retrospective Cohort Study

Reunert, J., A. S. Lotz-Havla, G. Polo, F. Kannenberg, M. Fobker, M. Griese, E. Mengel, A. C. Muntau, P. Schnabel, O. Sommerburg, I. Borggraefe, A. Dardis, A. P. Burlina, M. A. Mall, G. Ciana, B. Bembi, A. B. Burlina, and T. Marquardt

Niemann-Pick Type C-2 Disease: Identification by Analysis of Plasma Cholestane-3beta,5alpha,6beta-Triol and Further Insight into the Clinical Phenotype

Ries, M., E. Schaefer, T. Luhrs, L. Mani, J. Kuhn, M. T. Vanier, F. Krummenauer, A. Gal, M. Beck, and E. Mengel

Critical Assessment of Chitotriosidase Analysis in the Rational Laboratory Diagnosis of Children with Gaucher Disease and Niemann-Pick Disease Type a/B and C

Speak, A. O., N. Platt, M. Salio, D. te Vruchte, D. A. Smith, D. Shepherd, N. Veerapen, G. S. Besra, N. M. Yanjanin, L. Simmons, J. Imrie, J. E. Wraith, R. H. Lachmann, R. Hartung, H. Runz, E. Mengel, M. Beck, C. J. Hendriksz, F. D. Porter, V. Cerundolo, and F. M. Platt

Invariant Natural Killer T Cells Are Not Affected by Lysosomal Storage in Patients with Niemann-Pick Disease Type C

Speak, A. O., D. Te Vruchte, L. C. Davis, A. J. Morgan, D. A. Smith, N. M. Yanjanin, L. Simmons, R. Hartung, H. Runz, E. Mengel, M. Beck, J. Imrie, E. Jacklin, J. E. Wraith, C. Hendriksz, R. Lachmann, C. Cognet, R. Sidhu, H. Fujiwara, D. S. Ory, A. Galione, F. D. Porter, E. Vivier, and F. M. Platt

Altered Distribution and Function of Natural Killer Cells in Murine and Human Niemann-Pick Disease Type C1

Stampfer, M., S. Theiss, Y. Amraoui, X. Jiang, S. Keller, D. S. Ory, E. Mengel, C. Fischer, and H. Runz

Niemann-Pick Disease Type C Clinical Database: Cognitive and Coordination Deficits Are Early Disease Indicators

Tangemo, C., D. Weber, S. Theiss, E. Mengel, and H. Runz

Niemann-Pick Type C Disease: Characterizing Lipid Levels in Patients with Variant Lysosomal Cholesterol Storage

te Vruchte, D., A. O. Speak, K. L. Wallom, N. Al Eisa, D. A. Smith, C. J. Hendriksz, L. Simmons, R. H. Lachmann, A. Cousins, R. Hartung, E. Mengel, H. Runz, M. Beck, Y. Amraoui, J. Imrie, E. Jacklin, K. Riddick, N. M. Yanjanin, C. A. Wassif, A. Rolfs, F. Rimmele, N. Wright, C. Taylor, U. Ramaswami, T. M. Cox, C. Hastings, X. Jiang, R. Sidhu, D. S. Ory, B. Arias, M. Jeyakumar, D. J. Sillence, J. E. Wraith, F. D. Porter, M. Cortina-Borja, and F. M. Platt

Relative Acidic Compartment Volume as a Lysosomal Storage Disorder-Associated Biomarker

Valayannopoulos, V., E. Mengel, A. Brassier, and G. Grabowski. "Lysosomal Acid Lipase Deficiency: Expanding Differential Diagnosis

Lysosomal Acid Lipase Deficiency: Expanding Differential Diagnosis

Vom Dahl, S., and E. Mengel

Lysosomal Storage Diseases as Differential Diagnosis of Hepatosplenomegaly

Welford, R. W., M. Garzotti, C. Marques Lourenco, E. Mengel, T. Marquardt, J. Reunert, Y. Amraoui, S. A. Kolb, O. Morand, and P. Groenen

Plasma Lysosphingomyelin Demonstrates Great Potential as a Diagnostic Biomarker for Niemann-Pick Disease Type C in a Retrospective Study

Boentert, M., N. Karabul, S. Wenninger, B. Stubbe-Drager, E. Mengel, B. Schoser, and P. Young

Sleep-Related Symptoms and Sleep-Disordered Breathing in Adult Pompe Disease

Byrne, B. J., T. Geberhiwot, B. A. Barshop, R. Barohn, D. Hughes, D. Bratkovic, C. Desnuelle, P. Laforet, E. Mengel, M. Roberts, P. Haroldsen, K. Reilley, K. Jayaram, K. Yang, L. Walsh, and P. O. M. Investigators

A Study on the Safety and Efficacy of Reveglucosidase Alfa in Patients with Late-Onset Pompe Disease

Chien, Y. H., A. van der Ploeg, S. Jones, B. Byrne, A. Vellodi, N. Leslie, E. Mengel, S. P. Shankar, P. Tanpaiboon, D. W. Stockton, J. B. Hennermann, Z. Devecseri, J. Kempf, J. Keutzer, and P. Kishnani

Survival and Developmental Milestones among Pompe Registry Patients with Classic Infantile-Onset Pompe Disease with Different Timing of Initiation of Treatment with Enzyme Replacement Therapy

El-Gharbawy, A. H., G. Bhat, J. E. Murillo, B. L. Thurberg, C. Kampmann, K. E. Mengel, and P. S. Kishnani

Expanding the Clinical Spectrum of Late-Onset Pompe Disease: Dilated Arteriopathy Involving the Thoracic Aorta, a Novel Vascular Phenotype Uncovered

Gokce, S., N. Karabul, J. B. Hennermann, and E. Mengel

Motor Development in Infantile Pompe Disease

Hahn, A., J. B. Hennermann, M. Huemer, C. Kampmann, T. Marquardt, E. Mengel, W. Muller-Felber, N. Muschol, M. Rohrbach, and F. Stehling

Diagnosis and Care of Infants and Children with Pompe Disease

Hahn, A., S. Praetorius, N. Karabul, J. Diessel, D. Schmidt, R. Motz, C. Haase, M. Baethmann, J. B. Hennermann, M. Smitka, R. Santer, N. Muschol, A. Meyer, T. Marquardt, M. Huemer, C. Thiels, M. Rohrbach, G. Seyfullah, and E. Mengel

Outcome of Patients with Classical Infantile Pompe Disease Receiving Enzyme Replacement Therapy in Germany

Hauser, F., S. Gokce, G. Werner, S. Danckwardt, S. Sollfrank, C. Neukirch, V. Beyer, J. B. Hennermann, K. J. Lackner, E. Mengel, and H. Rossmann

A Non-Invasive Diagnostic Assay for Rapid Detection and Characterization of Aberrant Mrna-Splicing by Nonsense Mediated Decay Inhibition

Herzog, A., R. Hartung, A. J. Reuser, P. Hermanns, H. Runz, N. Karabul, S. Gokce, J. Pohlenz, C. Kampmann, C. Lampe, M. Beck, and E. Mengel

A Cross-Sectional Single-Centre Study on the Spectrum of Pompe Disease, German Patients: Molecular Analysis of the Gaa Gene, Manifestation and Genotype-Phenotype Correlations

Karabul, N., J. Berndt, C. Kornblum, R. A. Kley, S. Wenninger, N. Tiling, E. Mengel, U. Plockinger, M. Vorgerd, M. Deschauer, B. Schoser, and F. Hanisch

Pregnancy and Delivery in Women with Pompe Disease

Karabul, N., A. Skudlarek, J. Berndt, C. Kornblum, R. A. Kley, S. Wenninger, N. Tiling, E. Mengel, U. Plockinger, M. Vorgerd, M. Deschauer, B. Schoser, and F. Hanisch

Urge Incontinence and Gastrointestinal Symptoms in Adult Patients with Pompe Disease: A Cross-Sectional Survey

Karabul, N., A. Skudlarek, J. Berndt, C. Kornblum, R. A. Kley, S. Wenninger, N. Tiling, E. Mengel, U. Plockinger, M. Vorgerd, M. Deschauer, B. Schoser, and F. Hanisch

Urge Incontinence and Gastrointestinal Symptoms in Adult Patients with Pompe Disease: A Cross-Sectional Survey

Lagler, F. B., A. Moder, M. Rohrbach, J. Hennermann, E. Mengel, S. Gokce, T. Hundsberger, K. M. Rosler, N. Karabul, and M. Huemer

Extent, Impact, and Predictors of Diagnostic Delay in Pompe Disease: A Combined Survey Approach to Unveil the Diagnostic Odyssey

Lollert, A., C. Stihl, A. M. Hotker, E. Mengel, J. Konig, K. Laudemann, S. Gokce, C. Duber, and G. Staatz

Quantification of Intramuscular Fat in Patients with Late-Onset Pompe Disease by Conventional Magnetic Resonance Imaging for the Long-Term Follow-up of Enzyme Replacement Therapy

Lukacs, Z., P. Nieves Cobos, E. Mengel, R. Hartung, M. Beck, M. Deschauer, A. Keil, and R. Santer

Diagnostic Efficacy of the Fluorometric Determination of Enzyme Activity for Pompe Disease from Dried Blood Specimens Compared with Lymphocytes-Possibility for Newborn Screening

Pena, L. D. M., R. J. Barohn, B. J. Byrne, C. Desnuelle, O. Goker-Alpan, S. Ladha, P. Laforet, K. E. Mengel, A. Pestronk, J. Pouget, B. Schoser, V. Straub, J. Trivedi, P. Van Damme, J. Vissing, P. Young, K. Kacena, R. Shafi, B. L. Thurberg, K. Culm-Merdek, A. T. van der Ploeg, and N. E. O. Investigator Group

Safety, Tolerability, Pharmacokinetics, Pharmacodynamics, and Exploratory Efficacy of the Novel Enzyme Replacement Therapy Avalglucosidase Alfa (Neogaa) in Treatment-Naive and Alglucosidase Alfa-Treated Patients with Late-Onset Pompe Disease: A Phase 1, O

Pompe Disease Diagnostic Working, Group, B. Winchester, D. Bali, O. A. Bodamer, C. Caillaud, E. Christensen, A. Cooper, E. Cupler, M. Deschauer, K. Fumic, M. Jackson, P. Kishnani, L. Lacerda, J. Ledvinova, A. Lugowska, Z. Lukacs, I. Maire, H. Mandel, E. Mengel, W. Muller-Felber, M. Piraud, A. Reuser, T. Rupar, I. Sinigerska, M. Szlago, F. Verheijen, O. P. van Diggelen, B. Wuyts, E. Zakharova, and J. Keutzer

Methods for a Prompt and Reliable Laboratory Diagnosis of Pompe Disease: Report from an International Consensus Meeting

Regnery, C., C. Kornblum, F. Hanisch, S. Vielhaber, N. Strigl-Pill, B. Grunert, W. Muller-Felber, F. X. Glocker, M. Spranger, M. Deschauer, E. Mengel, and B. Schoser

36 Months Observational Clinical Study of 38 Adult Pompe Disease Patients under Alglucosidase Alfa Enzyme Replacement Therapy

Schanzer, A., A. K. Kaiser, C. Muhlfeld, M. Kulessa, W. Paulus, H. von Pein, M. Rohrbach, L. Viergutz, E. Mengel, T. Marquardt, B. Neubauer, T. Acker, and A. Hahn

Quantification of Muscle Pathology in Infantile Pompe Disease

Schuller, A., C. Kornblum, M. Deschauer, M. Vorgerd, B. Schrank, E. Mengel, Z. Lukacs, D. Glaser, P. Young, U. Plockinger, and B. Schoser

Diagnosis and Therapy of Late Onset Pompe Disease

Strothotte, S., N. Strigl-Pill, B. Grunert, C. Kornblum, K. Eger, C. Wessig, M. Deschauer, F. Breunig, F. X. Glocker, S. Vielhaber, A. Brejova, M. Hilz, K. Reiners, W. Muller-Felber, E. Mengel, M. Spranger, and B. Schoser

Enzyme Replacement Therapy with Alglucosidase Alfa in 44 Patients with Late-Onset Glycogen Storage Disease Type 2: 12-Month Results of an Observational Clinical Trial

van Capelle, C. I., J. C. van der Meijden, J. M. van den Hout, J. Jaeken, M. Baethmann, T. Voit, M. A. Kroos, T. G. Derks, M. E. Rubio-Gozalbo, M. A. Willemsen, R. H. Lachmann, E. Mengel, H. Michelakakis, J. C. de Jongste, A. J. Reuser, and A. T. van der Ploeg

Childhood Pompe Disease: Clinical Spectrum and Genotype in 31 Patients

Müller-Forell W, Schulze Frenking G, Amraoui Y, Beck M.

Mucopolysaccharidosis (MPS) Clinical and Neuroradiological Aspects of the Different types

Harmatz P1, Giugliani R, Schwartz IV, Guffon N, Teles EL, Miranda MC, Wraith JE, Beck M, Arash L, Scarpa M, Ketteridge D, Hopwood JJ, Plecko B, Steiner R, Whitley CB, Kaplan P, Yu ZF, Swiedler SJ, Decker C; Amraoui Y.

Endurance and safety outcomes during enzyme replacement therapy for mucopolysaccharidosis VI

Braunlin E1, Rosenfeld H, Kampmann C, Johnson J, Beck M, Giugliani R, Guffon N, Ketteridge D, Sá Miranda CM, Scarpa M, Schwartz IV, Leão Teles E, Wraith JE, Barrios P, Dias da Silva E, Kurio G, Richardson M, Gildengorin G, Hopwood JJ, Imperiale M, Schatz A, Decker C, Harmatz P; Amraoui Y

Enzyme replacement therapy for mucopoysaccharidosis VI: long-term cardiac effects of galsulfase (Naglazyme®)

Amraoui Y; Mengel E, Gerner P, baba HA, Beck M.

Cholesterinester- Speicher-krankheit. Seltene Erkrankungen oder häufig übersehen?

Vruchte D, Speak AO, Wallom KL, Al Eisa N, Smith DA, Hendriksz CJ, Simmons L, Lachmann RH, Cousins A, Hartung R, Mengel E, Runz H, Beck M, Amraoui Y, Imrie J, Jacklin E, Riddick K, Yanjanin NM, Wassif CA, Rolfs A, Rimmele F, Wright N, Taylor C, Ramaswami U, Cox TM, Hastings C, Jiang X, Sidhu R, Ory DS, Arias B, Jeyakumar M, Sillence DJ, Wraith JE, Porter FD, Cortina-Borja M, Platt FM.

Relative acidic compartment volume as a lysosomal storage disorder-associated Biomarker

Borgwardt L, Stensland HM, Olsen KJ, Wibrand F, Klenow HB, Beck M, Amraoui Y, Arash L, Fogh J, Nilssen Ø, Dali CI, Lund AM. 

Alpha-mannosidosis: correlation between phenotype, genotype and mutant MAN2B1 subcellular localisation

Borgwardt L, Lund AM, Amraoui Y, Andersen O, De Meirleir L, Dolhem P, Campos MG, Guffon N, Heron B, Laroche C, Marquardt T, Mengel E, Muschol N, Tylki-Szymanska A, Van den Hout JMH, Van Der Ploeg A, Welling L, Wijburg F, Cole D, Fogh J, Geraci S, Ardigo D, Cattaneo F.

Long-term enzyme replacement therapy with velmanase alfa slows disease progression in adult patients suffering from alpha-mannosidosis

Lund AM, Borgwardt L, Cattaneo F, Ardigò D, Geraci S, Gil-Campos M, De Meirleir L, Laroche C, Dolhem P, Cole D, Tylki-Szymanska A, Lopez-Rodriguez M, Guillén-Navarro E, Dali CI, Héron B, Fogh J, Muschol N, Phillips D, Van den Hout JMH, Jones SA, Amraoui Y, Harmatz P, Guffon N.

Comprehensive long-term efficacy and safety of recombinant human alpha-mannosidase treatment in patients with alpha-mannosidosis

Borgwardt L, Guffon N, Amraoui Y, Dali CI, De Meirleir L, Gil-Campos M, Heron B, Geraci S, Ardigò D, Cattaneo F, Fogh J, Van den Hout JMH, Beck M, Jones SA, Tylki-Szymanska A, Haugsted U, Lund AM.

Efficacy and safety of Velmanase alfa in the treatment of patients with alpha-mannosidosis: results from the core and extension phase analysis of a phase III multicentre, double-blind, randomised, placebo-controlled trial

Matlach J, Zindel T, Amraoui Y, Arash-Kaps L, Hennermann JB, Pitz S.

Retinal and optic nerve degeneration in α-mannosidosis

Dawn Phillips, Julia B. Hennermann, Anna Tylki-Szymanska, Line Borgwardt, Mercedes Gil-Campos, Nathalie Guffon, Yasmina Amraoui, Silvia Geraci, Diego Ardigò, Federica Cattaneo, Allan M. Lund.

Use of the Bruininks-Oseretsky test of motor proficiency (BOT-2) to assess efficacy of velmanase alfa as enzyme therapy for alpha-mannosidosis

McGovern, M. M., C. Dionisi-Vici, R. Giugliani, P. Hwu, O. Lidove, Z. Lukacs, K. Eugen Mengel, P. K. Mistry, E. H. Schuchman, and M. P. Wasserstein. 


Consensus Recommendation for a Diagnostic Guideline for Acid Sphingomyelinase DeficiencyGenet Med 19, no. 9 (Sep 2017)

Mengel, E., B. Bembi, M. Del Toro, F. Deodato, M. Gautschi, S. Grunewald, S. Gronborg, B. Heron, E. M. Maier, A. Roubertie, S. Santra, A. Tylki-Szymanska, S. Day, T. Symonds, S. Hudgens, M. C. Patterson, C. Guldberg, L. Ingemann, N. H. T. Petersen, T. Kirkegaard, and I. Dali C.

Clinical Disease Progression and Biomarkers in Niemann-Pick Disease Type C: A Prospective Cohort Study

Patterson, M. C., E. Mengel, M. T. Vanier, P. Moneuse, D. Rosenberg, and M. Pineda

Treatment Outcomes Following Continuous Miglustat Therapy in Patients with Niemann-Pick Disease Type C: A Final Report of the Npc Registry

Baldellou, A., G. Andria, P. E. Campbell, J. Charrow, I. J. Cohen, G. A. Grabowski, C. M. Harris, P. Kaplan, K. McHugh, E. Mengel, and A. Vellodi

Paediatric Non-Neuronopathic Gaucher Disease: Recommendations for Treatment and Monitoring

Beck, M., E. Mengel, and R. Barone

Enzyme Replacement Therapy: A New Treatment Concept in Gaucher Disease

Belmatoug, N., A. Burlina, P. Giraldo, C. J. Hendriksz, D. J. Kuter, E. Mengel, and G. M. Pastores

Gastrointestinal Disturbances and Their Management in Miglustat-Treated Patients

Bembi, B., G. Ciana, E. Mengel, M. R. Terk, C. Martini, and R. J. Wenstrup.

Bone Complications in Children with Gaucher Disease

Biegstraaten, M., T. M. Cox, N. Belmatoug, M. G. Berger, T. Collin-Histed, S. Vom Dahl, M. Di Rocco, C. Fraga, F. Giona, P. Giraldo, M. Hasanhodzic, D. A. Hughes, P. O. Iversen, A. I. Kiewiet, E. Lukina, M. Machaczka, T. Marinakis, E. Mengel, G. M. Pastores, U. Plockinger, H. Rosenbaum, C. Serratrice, A. Symeonidis, J. Szer, J. Timmerman, A. Tylki-Szymanska, M. Weisz Hubshman, D. I. Zafeiriou, A. Zimran, and C. E. M. Hollak.

Management Goals for Type 1 Gaucher Disease: An Expert Consensus Document from the European Working Group on Gaucher Disease

Biegstraaten, M., E. Mengel, L. Marodi, M. Petakov, C. Niederau, P. Giraldo, D. Hughes, M. Mrsic, A. Mehta, C. E. Hollak, and I. N. van Schaik.

Peripheral Neuropathy in Adult Type 1 Gaucher Disease: A 2-Year Prospective Observational Study

Biegstraaten, M., K. A. Wesnes, C. Luzy, M. Petakov, M. Mrsic, C. Niederau, P. Giraldo, D. Hughes, A. Mehta, K. E. Mengel, C. E. Hollak, L. Marodi, and I. N. van Schaik

The Cognitive Profile of Type 1 Gaucher Disease Patients

Bremova-Ertl, T., R. Schiffmann, M. C. Patterson, N. Belmatoug, T. Billette de Villemeur, S. Bardins, C. Frenzel, V. Malinova, S. Naumann, J. Arndt, E. Mengel, J. Reinke, R. Strobl, and M. Strupp.

Oculomotor and Vestibular Findings in Gaucher Disease Type 3 and Their Correlation with Neurological Findings

Davies, E. H., A. Erikson, T. Collin-Histed, E. Mengel, A. Tylki-Szymanska, and A. Vellodi.

Outcome of Type Iii Gaucher Disease on Enzyme Replacement Therapy: Review of 55 Cases

Davies, E. H., E. Mengel, A. Tylki-Szymanska, G. Kleinotiene, J. Reinke, and A. Vellodi.

Four-Year Follow-up of Chronic Neuronopathic Gaucher Disease in Europeans Using a Modified Severity Scoring Tool

Garbade, S. F., M. Zielonka, K. Mechler, S. Kolker, G. F. Hoffmann, C. Staufner, E. Mengel, and M. Ries.

Fda Orphan Drug Designations for Lysosomal Storage Disorders - a Cross-Sectional Analysis

Granovsky-Grisaru, S., N. Belmatoug, S. vom Dahl, E. Mengel, E. Morris, and A. Zimran

The Management of Pregnancy in Gaucher Disease

Hollak, C. E., S. vom Dahl, J. M. Aerts, N. Belmatoug, B. Bembi, Y. Cohen, T. Collin-Histed, P. Deegan, L. van Dussen, P. Giraldo, E. Mengel, H. Michelakakis, J. Manuel, M. Hrebicek, R. Parini, J. Reinke, M. di Rocco, M. Pocovi, M. C. Sa Miranda, A. Tylki-Szymanska, A. Zimran, and T. M. Cox.

Force Majeure: Therapeutic Measures in Response to Restricted Supply of Imiglucerase (Cerezyme) for Patients with Gaucher Disease

Hopf, S., N. Pfeiffer, M. Liesenfeld, K. E. Mengel, J. B. Hennermann, I. Schmidtmann, and S. Pitz.

A Comprehensive Monocentric Ophthalmic Study with Gaucher Disease Type 3 Patients: Vitreoretinal Lesions, Retinal Atrophy and Characterization of Abnormal Saccades

Jansen, T., E. Mengel, M. Beck, and S. Grabbe.

Morbus Gaucher: Eine Stoffwechselstörung Mit Typischer, Kutaner Manifestation

Laudemann, K., L. Moos, E. Mengel, A. Lollert, C. Hoffmann, M. Brixius-Huth, D. Wagner, C. Duber, and G. Staatz.

Evaluation of Treatment Response to Enzyme Replacement Therapy with Velaglucerase Alfa in Patients with Gaucher Disease Using Whole-Body Magnetic Resonance Imaging

Laudemann, K., L. Moos, K. E. Mengel, A. Lollert, J. Reinke, M. Brixius-Huth, D. Wagner, C. Duber, and G. Staatz.

Evaluation of Bone Marrow Infiltration in Non-Neuropathic Gaucher Disease Patients with Use of Whole-Body Mri - a Retrospective Data Analysis

Lollert, A., K. Laudemann, E. Mengel, C. Hoffmann, L. Moos, J. Reinke, M. Brixius-Huth, J. B. Hennermann, C. Duber, and G. Staatz.

Retrospective Analysis of Whole-Body Magnetic Resonance Imaging of Bone Manifestations in Long-Term Treated Patients with Gaucher Disease Type 1

Manger, B., E. Mengel, and R. M. Schaefer.

Rheumatologic Aspects of Lysosomal Storage Diseases

Manger, B., E. Mengel, R. M. Schaefer, C. Haase, J. Seidel, and H. Michels.

Gaucher Disease, Fabry Disease and Mucopolysaccharidosis Type I - How Can the Rheumatologist Recognise These Patients?

Mehta, A., N. Belmatoug, B. Bembi, P. Deegan, D. Elstein, O. Goker-Alpan, E. Lukina, E. Mengel, K. Nakamura, G. M. Pastores, J. P. Lopez, I. Schwartz, C. Serratrice, J. Szer, A. Zimran, M. Di Rocco, Z. Panahloo, D. J. Kuter, and D. Hughes

Exploring the Patient Journey to Diagnosis of Gaucher Disease from the Perspective of 212 Patients with Gaucher Disease and 16 Gaucher Expert Physicians

Mehta, A., D. J. Kuter, S. S. Salek, N. Belmatoug, B. Bembi, J. Bright, S. Vom Dahl, F. Deodato, M. Di Rocco, O. Goker-Alpan, D. A. Hughes, E. A. Lukina, M. Machaczka, E. Mengel, A. Nagral, K. Nakamura, A. Narita, B. Oliveri, G. Pastores, J. Perez-Lopez, U. Ramaswami, I. V. Schwartz, J. Szer, N. J. Weinreb, and A. Zimran.

Presenting Signs and Patient Co-Variables in Gaucher Disease: Outcome of the Gaucher Earlier Diagnosis Consensus (Ged-C) Delphi Initiative

Meikle, P. J., P. D. Whitfield, T. Rozaklis, D. Blacklock, S. Duplock, D. Elstein, A. Zimran, E. Mengel, P. Cannell, J. J. Hopwood, and M. Fuller.

Plasma Lipids Are Altered in Gaucher Disease: Biochemical Markers to Evaluate Therapeutic Intervention

Michels, H. , E. Mengel, H. I. Huppertz, and R. M. Schaefer.

Morbus Gaucher, Mukopolysaccharidose Typ I (Scheie) Und Morbus Fabry

Michels, H. and E. Mengel.

Lysosomal Storage Diseases as Differential Diagnoses to Rheumatic Disorders

Pastores, G. M., M. Petakov, P. Giraldo, H. Rosenbaum, J. Szer, P. B. Deegan, D. J. Amato, E. Mengel, E. S. Tan, R. Chertkoff, E. Brill-Almon, and A. Zimran.

A Phase 3, Multicenter, Open-Label, Switchover Trial to Assess the Safety and Efficacy of Taliglucerase Alfa, a Plant Cell-Expressed Recombinant Human Glucocerebrosidase, in Adult and Pediatric Patients with Gaucher Disease Previously Treated with Imigluc

Ries, M., E. Schaefer, T. Luhrs, L. Mani, J. Kuhn, M. T. Vanier, F. Krummenauer, A. Gal, M. Beck, and E. Mengel.

Critical Assessment of Chitotriosidase Analysis in the Rational Laboratory Diagnosis of Children with Gaucher Disease and Niemann-Pick Disease Type a/B and C

Schiffmann, R., J. Sevigny, A. Rolfs, E. H. Davies, O. Goker-Alpan, M. Abdelwahab, A. Vellodi, E. Mengel, E. Lukina, H. W. Yoo, T. Collin-Histed, A. Narita, T. Dinur, S. Revel-Vilk, D. Arkadir, J. Szer, M. Wajnrajch, U. Ramaswami, E. Sidransky, A. Donald, and A. Zimran.

The Definition of Neuronopathic Gaucher Disease

Valayannopoulos, V., E. Mengel, A. Brassier, and G. Grabowski.

Lysosomal Acid Lipase Deficiency: Expanding Differential Diagnosis

Vellodi, A., B. Bembi, T. B. de Villemeur, T. Collin-Histed, A. Erikson, E. Mengel, A. Rolfs, and A. Tylki-Szymanska.

Management of Neuronopathic Gaucher Disease: A European Consensus

Vellodi, A., A. Tylki-Szymanska, E. H. Davies, E. Kolodny, B. Bembi, T. Collin-Histed, E. Mengel, A. Erikson, and R. Schiffmann.

Management of Neuronopathic Gaucher Disease: Revised Recommendations

Vom Dahl, S. and E. Mengel.

Lysosomal Storage Diseases as Differential Diagnosis of Hepatosplenomegaly

Wendt, S., E. Mengel, and M. Beck.

Gaucher Disease and Miscellaneous

Yildiz, Y., P. Hoffmann, S. Vom Dahl, B. Breiden, R. Sandhoff, C. Niederau, M. Horwitz, S. Karlsson, M. Filacamo, D. Elstein, M. Beck, K. Sandhoff, E. Mengel, M. C. Gonzalez, M. M. Nothen, E. Sidransky, A. Zimran, and M. Mattheisen.

Functional and Genetic Characterization of the Non-Lysosomal Glucosylceramidase 2 as a Modifier for Gaucher Disease

Zimran, A., E. Morris, E. Mengel, P. Kaplan, N. Belmatoug, D. A. Hughes, V. Malinova, R. Heitner, E. Sobreira, M. Mrsic, S. Granovsky-Grisaru, D. Amato, and S. Vom Dahl.

The Female Gaucher Patient: The Impact of Enzyme Replacement Therapy around Key Reproductive Events (Menstruation, Pregnancy and Menopause)

Amraoui, Y., E. Mengel, P. Gerner, H.A. Baba, and M. Beck.

Cholesterinester-Speicherkrankheit - Seltene Erkrankung Oder Häufig Übersehen?

Burton, B. K., M. Balwani, F. Feillet, I. Baric, T. A. Burrow, C. Camarena Grande, M. Coker, A. Consuelo-Sanchez, P. Deegan, M. Di Rocco, G. M. Enns, R. Erbe, F. Ezgu, C. Ficicioglu, K. N. Furuya, J. Kane, C. Laukaitis, E. Mengel, E. G. Neilan, S. Nightingale, H. Peters, M. Scarpa, K. O. Schwab, V. Smolka, V. Valayannopoulos, M. Wood, Z. Goodman, Y. Yang, S. Eckert, S. Rojas-Caro, and A. G. Quinn.

A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency

Valayannopoulos, V., E. Mengel, A. Brassier, and G. Grabowski.

Lysosomal Acid Lipase Deficiency: Expanding Differential Diagnosis

De Ru, M. H., J. J. Boelens, A. M. Das, S. A. Jones, J. H. van der Lee, N. Mahlaoui, E. Mengel, M. Offringa, A. O'Meara, R. Parini, A. Rovelli, K. W. Sykora, V. Valayannopoulos, A. Vellodi, R. F. Wynn, and F. A. Wijburg.

Enzyme Replacement Therapy and/or Hematopoietic Stem Cell Transplantation at Diagnosis in Patients with Mucopolysaccharidosis Type I: Results of a European Consensus Procedure

Eisengart, J. B., K. D. Rudser, Y. Xue, P. Orchard, W. Miller, T. Lund, A. Van der Ploeg, J. Mercer, S. Jones, K. E. Mengel, S. Gokce, N. Guffon, R. Giugliani, C. F. M. de Souza, E. G. Shapiro, and C. B. Whitley.

Long-Term Outcomes of Systemic Therapies for Hurler Syndrome: An International Multicenter Comparison

Garbade, S. F., M. Zielonka, K. Mechler, S. Kolker, G. F. Hoffmann, C. Staufner, E. Mengel, and M. Ries.

Fda Orphan Drug Designations for Lysosomal Storage Disorders - a Cross-Sectional Analysis

Harmatz, P., K. E. Mengel, R. Giugliani, V. Valayannopoulos, S. P. Lin, R. Parini, N. Guffon, B. K. Burton, C. J. Hendriksz, J. Mitchell, A. Martins, S. Jones, N. Guelbert, A. Vellodi, C. Hollak, P. Slasor, and C. Decker.

The Morquio a Clinical Assessment Program: Baseline Results Illustrating Progressive, Multisystemic Clinical Impairments in Morquio a Subjects

Harmatz, P. R., E. Mengel, T. Geberhiwot, N. Muschol, C. J. Hendriksz, B. K. Burton, E. Jameson, K. I. Berger, A. Jester, M. Treadwell, Z. Sisic, and C. Decker.

Impact of Elosulfase Alfa in Patients with Morquio a Syndrome Who Have Limited Ambulation: An Open-Label, Phase 2 Study

Harmatz, P. R., K. E. Mengel, R. Giugliani, V. Valayannopoulos, S. P. Lin, R. Parini, N. Guffon, B. K. Burton, C. J. Hendriksz, J. J. Mitchell, A. M. Martins, S. A. Jones, N. Guelbert, A. Vellodi, F. A. Wijburg, K. Yang, P. Slasor, and C. Decker.

Longitudinal Analysis of Endurance and Respiratory Function from a Natural History Study of Morquio a Syndrome

Hendriksz, C. J., B. Burton, T. R. Fleming, P. Harmatz, D. Hughes, S. A. Jones, S. P. Lin, E. Mengel, M. Scarpa, V. Valayannopoulos, R. Giugliani, Strive Investigators, P. Slasor, D. Lounsbury, and W. Dummer.

Efficacy and Safety of Enzyme Replacement Therapy with Bmn 110 (Elosulfase Alfa) for Morquio a Syndrome (Mucopolysaccharidosis Iva): A Phase 3 Randomised Placebo-Controlled Study

Hendriksz, C. J., R. Giugliani, P. Harmatz, E. Mengel, N. Guffon, V. Valayannopoulos, R. Parini, D. Hughes, G. M. Pastores, H. A. Lau, M. D. Al-Sayed, J. Raiman, Strive Investigators, K. Yang, M. Mealiffe, and C. Haller.

Multi-Domain Impact of Elosufase Alfa in Morquio a Syndrome in the Pivotal Phase Iii Trial

Hennermann, J. B., S. Gokce, A. Solyom, E. Mengel, E. H. Schuchman, and C. M. Simonaro.

Treatment with Pentosan Polysulphate in Patients with Mps I: Results from an Open Label, Randomized, Monocentric Phase Ii Study

Hughes, D., R. Giugliani, N. Guffon, S. A. Jones, K. E. Mengel, R. Parini, R. Matousek, S. M. Hawley, and A. Quartel.

Clinical Outcomes in a Subpopulation of Adults with Morquio a Syndrome: Results from a Long-Term Extension Study of Elosulfase Alfa

Kampmann, C., T. Abu-Tair, S. Gokce, C. Lampe, J. Reinke, E. Mengel, J. B. Hennermann, and C. M. Wiethoff.

Heart and Cardiovascular Involvement in Patients with Mucopolysaccharidosis Type Iva (Morquio-a Syndrome)

Kampmann, C., C. Lampe, C. Whybra-Trumpler, C. M. Wiethoff, E. Mengel, L. Arash, M. Beck, and E. Miebach.

Mucopolysaccharidosis Vi: Cardiac Involvement and the Impact of Enzyme Replacement Therapy

Kampmann, C., C. M. Wiethoff, R. G. Huth, G. Staatz, E. Mengel, M. Beck, S. Gehring, T. Mewes, and T. Abu-Tair.

Management of Life-Threatening Tracheal Stenosis and Tracheomalacia in Patients with Mucopolysaccharidoses

Lampe, C., C. Lampe, M. Schwarz, W. Muller-Forell, P. Harmatz, and E. Mengel

Craniocervical Decompression in Patients with Mucopolysaccharidosis Vi: Development of a Scoring System to Determine Indication and Outcome of Surgery

Mendelson, D. S., M. P. Wasserstein, R. J. Desnick, R. Glass, W. Simpson, G. Skloot, M. Vanier, B. Bembi, R. Giugliani, E. Mengel, G. F. Cox, and M. M. McGovern.

Type B Niemann-Pick Disease: Findings at Chest Radiography, Thin-Section Ct, and Pulmonary Function Testing

Michels, H. , E. Mengel, H. I. Huppertz, and R. M. Schaefer.

Morbus Gaucher, Mukopolysaccharidose Typ I (Scheie) Und Morbus Fabry

Thumler, A., E. Miebach, C. Lampe, S. Pitz, W. Kamin, C. Kampmann, B. Link, and E. Mengel.

Clinical Characteristics of Adults with Slowly Progressing Mucopolysaccharidosis Vi: A Case Series

Whybra, C., E. Mengel, A. Russo, F. Bahlmann, C. Kampmann, M. Beck, E. Eich, and E. Mildenberger.

Lysosomal Storage Disorder in Non-Immunological Hydrops Fetalis (Nihf): More Common Than Assumed? Report of Four Cases with Transient Nihf and a Review of the Literature

Niemann, S., M. Beck, G. Seidel, J. Spranger, and P. Vieregge

Neurology of Adult Alpha-Mannosidosis

Borgwardt, L., C. I. Dali, J. Fogh, J. E. Mansson, K. J. Olsen, H. C. Beck, K. G. Nielsen, L. H. Nielsen, S. O. Olsen, H. M. Riise Stensland, O. Nilssen, F. Wibrand, A. M. Thuesen, T. Pearl, U. Haugsted, P. Saftig, J. Blanz, S. A. Jones, A. Tylki-Szymanska, N. Guffon-Fouiloux, M. Beck, and A. M. Lund

Enzyme Replacement Therapy for Alpha-Mannosidosis: 12 Months Follow-up of a Single Centre, Randomised, Multiple Dose Study

Beck, M., K. J. Olsen, J. E. Wraith, J. Zeman, J. C. Michalski, P. Saftig, J. Fogh, and D. Malm

Natural History of Alpha Mannosidosis a Longitudinal Study

Hofer, D., K. Paul, K. Fantur, M. Beck, A. Roubergue, A. Vellodi, B. J. Poorthuis, H. Michelakakis, B. Plecko, and E. Paschke

Phenotype Determining Alleles in Gm1 Gangliosidosis Patients Bearing Novel Glb1 Mutations

Caliskan, M., M. Ozmen, M. Beck, and S. Apak

Thalamic Hyperdensity - Is It a Diagnostic Marker for Sandhoff Disease?

Beck, M., N. Sieber, and H. H. Goebel

Progressive Cerebellar Ataxia in Juvenile Gm2-Gangliosidosis Type Sandhoff

Beck, M., E. R. Valadares, and J. Lotz

Gaucher's Disease: Therapy by Intravenous Infusions of Modified Glucocerebrosidase

le Coutre, P., A. Demina, E. Beutler, M. Beck, and P. E. Petrides

Molecular Analysis of Gaucher Disease: Distribution of Eight Mutations and the Complete Gene Deletion in 27 Patients from Germany

Cox, T. M., J. M. Aerts, G. Andria, M. Beck, N. Belmatoug, B. Bembi, R. Chertkoff, S. Vom Dahl, D. Elstein, A. Erikson, M. Giralt, R. Heitner, C. Hollak, M. Hrebicek, S. Lewis, A. Mehta, G. M. Pastores, A. Rolfs, M. C. Miranda, A. Zimran, and Disease Advisory Council to the European Working Group on Gaucher

The Role of the Iminosugar N-Butyldeoxynojirimycin (Miglustat) in the Management of Type I (Non-Neuronopathic) Gaucher Disease: A Position Statement

Mengel, E., M. Beck, A. M. Das, F. Ebinger, S. Koch, H. H. Klünemann, M. Rohrbach, H. Runz, F. Rutsch, and G. C. Korenke

Morbus Niemann-Pick Typ C

Beck, M.

Alglucosidase Alfa: Long Term Use in the Treatment of Patients with Pompe Disease

Kishnani, P. S., D. Corzo, N. D. Leslie, D. Gruskin, A. Van der Ploeg, J. P. Clancy, R. Parini, G. Morin, M. Beck, M. S. Bauer, M. Jokic, C. E. Tsai, B. W. Tsai, C. Morgan, T. O'Meara, S. Richards, E. C. Tsao, and H. Mandel

Early Treatment with Alglucosidase Alpha Prolongs Long-Term Survival of Infants with Pompe Disease

Kishnani, P. S., D. Corzo, M. Nicolino, B. Byrne, H. Mandel, W. L. Hwu, N. Leslie, J. Levine, C. Spencer, M. McDonald, J. Li, J. Dumontier, M. Halberthal, Y. H. Chien, R. Hopkin, S. Vijayaraghavan, D. Gruskin, D. Bartholomew, A. van der Ploeg, J. P. Clancy, R. Parini, G. Morin, M. Beck, G. S. De la Gastine, M. Jokic, B. Thurberg, S. Richards, D. Bali, M. Davison, M. A. Worden, Y. T. Chen, and J. E. Wraith

Recombinant Human Acid Alpha-Glucosidase: Major Clinical Benefits in Infantile-Onset Pompe Disease

Beck.M, C.Whybra, and J.Kriegsmann

Morbus Fabry - Aktuelle Therapeutische Perspektiven

Beck, M., C. Whybra, K. Wendrich, A. Gal, and M. Ries

Anderson-Fabry Disease in Children and Adolescents

Ries, M., K. Wendrich, C. Whybra, C. Kampmann, A. Gal, and M. Beck

Angiokeratoma and Pain, but Not Fabry's Disease: Considerations for Differential Diagnosis

Wendrich, K., C. Whybra, M. Ries, A. Gal, and M. Beck

Neurological Manifestation of Fabry Disease in Females

Whybra, C., C. Kampmann, I. Willers, J. Davies, B. Winchester, J. Kriegsmann, K. Bruhl, A. Gal, S. Bunge, and M. Beck

Anderson-Fabry Disease: Clinical Manifestations of Disease in Female Heterozygotes

Whybra, C., K. Wendrich, M. Ries, A. Gal, and M. Beck

Clinical Manifestation in Female Fabry Disease Patients

Beck, M

Agalsidase Alfa--a Preparation for Enzyme Replacement Therapy in Anderson-Fabry Disease

Kampmann, C., F. Baehner, M. Ries, and M. Beck

Cardiac Involvement in Anderson-Fabry Disease

Kampmann, C., F. Baehner, C. Whybra, C. Martin, C. M. Wiethoff, M. Ries, A. Gal, and M. Beck

Cardiac Manifestations of Anderson-Fabry Disease in Heterozygous Females

Kampmann, Ch., M. Ries, F. Baehner, K.S. Kim, M. Bajbouj, and M. Beck

nfluence of Enzyme Replacement Therapy (Ert) on Anderson Fabry Disease Associated Hypertrophic Infiltrative Cardiomyopathy (Hic)

Kampmann, C., C. Whybra, F. Baehner, and M. Beck

Enzyme Replacement Therapy in Anderson-Fabry Cardiomyopathy

Kampmann, C., C. M. Wiethoff, A. Perrot, M. Beck, R. Dietz, and K. J. Osterziel

The Heart in Anderson Fabry Disease

Perrot, A., K. J. Osterziel, M. Beck, R. Dietz, and C. Kampmann

Fabry Disease: Focus on Cardiac Manifestations and Molecular Mechanisms

Baehner, F., C. Kampmann, C. Whybra, E. Miebach, C. M. Wiethoff, and M. Beck

Enzyme Replacement Therapy in Heterozygous Females with Fabry Disease: Results of a Phase Iiib Study

Beck, M.

Fabry Disease: New Clinical Research--Current Therapeutic Perspectives

Beck, M.

Fabry Disease - a Progressive Multisystemic Lysosomal Storage Disorder

Beck, M., R. Ricci, U. Widmer, F. Dehout, A. G. de Lorenzo, C. Kampmann, A. Linhart, G. Sunder-Plassmann, G. Houge, U. Ramaswami, A. Gal, and A. Mehta

Fabry Disease: Overall Effects of Agalsidase Alfa Treatment

Mehta, A., R. Ricci, U. Widmer, F. Dehout, A. Garcia de Lorenzo, C. Kampmann, A. Linhart, G. Sunder-Plassmann, M. Ries, and M. Beck

Fabry Disease Defined: Baseline Clinical Manifestations of 366 Patients in the Fabry Outcome Survey

Whybra, C., C. Kampmann, F. Krummenauer, M. Ries, E. Mengel, E. Miebach, F. Baehner, K. Kim, M. Bajbouj, A. Schwarting, A. Gal, and M. Beck

The Mainz Severity Score Index: A New Instrument for Quantifying the Anderson-Fabry Disease Phenotype, and the Response of Patients to Enzyme Replacement Therapy

Fellgiebel, A., M. J. Muller, M. Mazanek, K. Baron, M. Beck, and P. Stoeter

White Matter Lesion Severity in Male and Female Patients with Fabry Disease

Hoffmann, B., A. Garcia de Lorenzo, A. Mehta, M. Beck, U. Widmer, R. Ricci, and F. O. S. European Investigators

Effects of Enzyme Replacement Therapy on Pain and Health Related Quality of Life in Patients with Fabry Disease: Data from Fos (Fabry Outcome Survey)

Kampmann, C., F. A. Baehner, C. Whybra, M. Bajbouj, K. Baron, M. Knuf, C. M. Wiethoff, H. Trubel, and M. Beck.

The Right Ventricle in Fabry Disease

Kleinert, J., F. Dehout, A. Schwarting, A. G. de Lorenzo, R. Ricci, C. Kampmann, M. Beck, U. Ramaswami, A. Linhart, A. Gal, G. Houge, U. Widmer, A. Mehta, and G. Sunder-Plassmann.

Anemia Is a New Complication in Fabry Disease: Data from the Fabry Outcome Survey

Kleinert, J., F. Dehout, A. Schwarting, A. G. de Lorenzo, R. Ricci, C. Kampmann, M. Beck, U. Ramaswami, A. Linhart, A. Gal, G. Houge, U. Widmer, A. Mehta, and G. Sunder-Plassmann.

Anemia Is a New Complication in Fabry Disease: Data from the Fabry Outcome Survey

ukacs, Z., A. Keil, A. Kohlschutter, M. Beck, and E. Mengel.

The Ratio of Alpha-Galactosidase to Beta-Glucuronidase Activities in Dried Blood for the Identification of Female Fabry Disease Patients

Muller, M. J., K. M. Muller, A. Dascalescu, C. Whybra, K. Baron, A. Scheurich, K. Mann, M. Beck, L. G. Schmidt, and A. Fellgiebel.

Psychiatrische Und Neuropsychologische Auffälligkeiten Bei Patienten Mit Morbus Fabry: Literaturübersicht

Schafer, E., K. Baron, U. Widmer, P. Deegan, H. P. Neumann, G. Sunder-Plassmann, J. O. Johansson, C. Whybra, M. Ries, G. M. Pastores, A. Mehta, M. Beck, and A. Gal.

Thirty-Four Novel Mutations of the Gla Gene in 121 Patients with Fabry Disease

Wendt, S., C. Whybra, C. Kampmann, E. Teichmann, and M. Beck.

Successful Pregnancy Outcome in a Patient with Fabry Disease Receiving Enzyme Replacement Therapy with Agalsidase Alfa

Deegan, P. B., A. F. Baehner, M. A. Barba Romero, D. A. Hughes, C. Kampmann, M. Beck, and F. O. S. Investigators European.

Natural History of Fabry Disease in Females in the Fabry Outcome Survey

Fellgiebel, A., M. Mazanek, C. Whybra, M. Beck, R. Hartung, K. M. Muller, A. Scheurich, P. R. Dellani, P. Stoeter, and M. J. Muller-

Pattern of Microstructural Brain Tissue Alterations in Fabry Disease : A Diffusion-Tensor Imaging Study

Hajioff, D., S. Hegemann, G. Conti, M. Beck, G. Sunder-Plassmann, U. Widmer, A. Mehta, and A. Keilmann.

Agalsidase Alpha and Hearing in Fabry Disease: Data from the Fabry Outcome Survey

Hegemann, S., D. Hajioff, G. Conti, M. Beck, G. Sunder-Plassmann, U. Widmer, A. Mehta, and A. Keilmann.

Hearing Loss in Fabry Disease: Data from the Fabry Outcome Survey

Kleinert, J., F. Dehout, A. Schwarting, A. G. de Lorenzo, R. Ricci, C. Kampmann, M. Beck, U. Ramaswami, A. Linhart, A. Gal, G. Houge, U. Widmer, A. Mehta, and G. Sunder-Plassmann.

Prevalence of Uncontrolled Hypertension in Patients with Fabry Disease

Lidove, O., U. Ramaswami, R. Jaussaud, F. Barbey, T. Maisonobe, C. Caillaud, M. Beck, G. Sunder-Plassmann, A. Linhart, A. Mehta, and F. O. S. European investigators.

Hyperhidrosis: A New and Often Early Symptom in Fabry Disease. International Experience and Data from the Fabry Outcome Survey

Muller, M. J., A. Fellgiebel, A. Scheurich, C. Whybra, M. Beck, and K. M. Muller.

Recurrent Brief Depression in a Female Patient with Fabry Disease

Nill, M., M. J. Muller, M. Beck, P. Stoeter, and A. Fellgiebel.

Pathophysiological Aspects of Brain Structural Disturbances in Patients with Fabry Disease: Literature Review

Ramaswami, U., C. Whybra, R. Parini, G. Pintos-Morell, A. Mehta, G. Sunder-Plassmann, U. Widmer, M. Beck, and F. O. S. European Investigators.

Clinical Manifestations of Fabry Disease in Children: Data from the Fabry Outcome Survey

Ries, M., J. T. Clarke, C. Whybra, M. Timmons, C. Robinson, B. L. Schlaggar, G. Pastores, Y. H. Lien, C. Kampmann, R. O. Brady, M. Beck, and R. Schiffmann-

Enzyme-Replacement Therapy with Agalsidase Alfa in Children with Fabry Disease

Safyan, R., C. Whybra, M. Beck, D. Elstein, and G. Altarescu

An Association Study of Inflammatory Cytokine Gene Polymorphisms in Fabry Disease

Schwarting, A., F. Dehout, S. Feriozzi, M. Beck, A. Mehta, G. Sunder-Plassmann, and F. O. S. Investigators European.

Enzyme Replacement Therapy and Renal Function in 201 Patients with Fabry Disease

Whybra, C., A. Schwarting, J. Kriegsmann, A. Gal, E. Mengel, C. Kampmann, F. Baehner, E. Schaefer, and M. Beck.

Iga Nephropathy in Two Adolescent Sisters Heterozygous for Fabry Disease

Albrecht, J., P. R. Dellani, M. J. Muller, I. Schermuly, M. Beck, P. Stoeter, A. Gerhard, and A. Fellgiebel.

Voxel Based Analyses of Diffusion Tensor Imaging in Fabry Disease

Beck, M.

New Therapeutic Options for Lysosomal Storage Disorders: Enzyme Replacement, Small Molecules and Gene Therapy

Cybulla, M., K. Walter, H. P. Neumann, U. Widmer, M. Scharer, G. Sunder-Plassmann, T. Jansen, A. Rolfs, and M. Beck.

Fabry Disease: Demographic Data since Introduction of Enzyme Replacement Therapy

Hoffmann, B., M. Beck, G. Sunder-Plassmann, W. Borsini, R. Ricci, A. Mehta, and F. O. S. European Investigators

Nature and Prevalence of Pain in Fabry Disease and Its Response to Enzyme Replacement Therapy--a Retrospective Analysis from the Fabry Outcome Survey

imberger, A., M. Beck, S. Delgado-Sanchez, and A. Keilmann.

Hearing Loss in Patients with Fabry Disease

Linhart, A., C. Kampmann, J. L. Zamorano, G. Sunder-Plassmann, M. Beck, A. Mehta, P. M. Elliott, and F. O. S. Investigators European.

Cardiac Manifestations of Anderson-Fabry Disease: Results from the International Fabry Outcome Survey

Lukacs, Z., R. Hartung, M. Beck, A. Keil, and E. Mengel.

Direct Comparison of Enzyme Measurements from Dried Blood and Leukocytes from Male and Female Fabry Disease Patients

Orteu, C. H., T. Jansen, O. Lidove, R. Jaussaud, D. A. Hughes, G. Pintos-Morell, U. Ramaswami, R. Parini, G. Sunder-Plassman, M. Beck, and A. B. Mehta.

Fabry Disease and the Skin: Data from Fos, the Fabry Outcome Survey

Ries, M., J. T. Clarke, C. Whybra, A. Mehta, K. S. Loveday, R. O. Brady, M. Beck, and R. Schiffmann-

Enzyme Replacement in Fabry Disease: Pharmacokinetics and Pharmacodynamics of Agalsidase Alfa in Children and Adolescents

Sodi, A., A. S. Ioannidis, A. Mehta, C. Davey, M. Beck, and S.

Ocular Manifestations of Fabry's Disease: Data from the Fabry Outcome Survey

Altarescu, G., G. Chicco, C. Whybra, S. Delgado-Sanchez, N. Sharon, M. Beck, and D. Elstein.

Correlation between Interleukin-6 Promoter and C-Reactive Protein (Crp) Polymorphisms and Crp Levels with the Mainz Severity Score Index for Fabry Disease

Hoffmann. B, M. Beck, A. Rolfs, and H. P. Neumann.

Fabry Disease - Complex Clinical Picture, Simple Diagnosis Procedure, Causal Treatment

Kampmann, C., A. Linhart, F. Baehner, T. Palecek, C. M. Wiethoff, E. Miebach, C. Whybra, A. Gal, J. Bultas, and M. Beck.

Onset and Progression of the Anderson-Fabry Disease Related Cardiomyopathy

Kampmann, C., C. M. Wiethoff, C. Whybra, F. A. Baehner, E. Mengel, and M. Beck.

Cardiac Manifestations of Anderson-Fabry Disease in Children and Adolescents

Kampmann, C., C. M. Wiethoff, C. Whybra, F. A. Baehner, E. Mengel, and M. Beck.

Cardiac Manifestations of Anderson-Fabry Disease in Children and Adolescents

Mehta, A., M. Beck, C. Kampmann, A. Frustaci, D. P. Germain, G. M. Pastores, and G. Sunder-Plassmann.

Enzyme Replacement Therapy in Fabry Disease: Comparison of Agalsidase Alfa and Agalsidase Beta

Rohard, I., E. Schaefer, C. Kampmann, M. Beck, and A. Gal.

Association between Polymorphisms of Endothelial Nitric Oxide Synthase Gene (Nos3) and Left Posterior Wall Thickness (Lpwt) of the Heart in Fabry Disease

Teitcher, M., S. Weinerman, C. Whybra, M. Beck, N. Sharon, D. Elstein, and G. Altarescu. 

Genetic Polymorphisms of Vitamin D Receptor (Vdr) in Fabry Disease

Thomaidis, T. M. Relle, M. Golbas, Ch. Brochhausen, P. R. Galle, M. Beck, and A. Schwarting.

Downregulation of a-Galactosidase a Upregulates Cd77: Functional Impact for Fabry Nephropathy

Beck, M. 

Agalsidase Alfa for the Treatment of Fabry Disease: New Data on Clinical Efficacy and Safety

Fellgiebel, A., I. Keller, D. Marin, M. J. Muller, I. Schermuly, I. Yakushev, J. Albrecht, H. Bellhauser, M. Kinateder, M. Beck, and P. Stoeter.

Diagnostic Utility of Different Mri and Mr Angiography Measures in Fabry Disease

Kalkum, G., D. Macchiella, J. Reinke, H. Kolbl, and M. Beck.

Enzyme Replacement Therapy with Agalsidase Alfa in Pregnant Women with Fabry Disease

Mehta, A., M. Beck, P. Elliott, R. Giugliani, A. Linhart, G. Sunder-Plassmann, R. Schiffmann, F. Barbey, M. Ries, and J. T. Clarke

Enzyme Replacement Therapy with Agalsidase Alfa in Patients with Fabry's Disease: An Analysis of Registry Data

Mehta, A., J. T. Clarke, R. Giugliani, P. Elliott, A. Linhart, M. Beck, G. Sunder-Plassmann, and F. O. S. Investigators.

Natural Course of Fabry Disease: Changing Pattern of Causes of Death in Fos - Fabry Outcome Survey

Pintos-Morell, G. and M. Beck.

Fabry Disease in Children and the Effects of Enzyme Replacement Treatment

Thomaidis, T., M. Relle, J. Reinke, M. Beck, and A. Schwarting.

Effect of Enzyme Replacement Therapy (Ert) on Renal Function of Patients with Fabry's Disease

West, M., K. Nicholls, A. Mehta, J. T. Clarke, R. Steiner, M. Beck, B. A. Barshop, W. Rhead, R. Mensah, M. Ries, and R. Schiffmann.

Agalsidase Alfa and Kidney Dysfunction in Fabry Disease

Whybra, C., E. Miebach, E. Mengel, A. Gal, K. Baron, M. Beck, and C. Kampmann.

A 4-Year Study of the Efficacy and Tolerability of Enzyme Replacement Therapy with Agalsidase Alfa in 36 Women with Fabry Disease

Giannini, E. H., A. B. Mehta, M. J. Hilz, M. Beck, D. G. Bichet, R. O. Brady, M. West, D. P. Germain, C. Wanner, S. Waldek, J. T. Clarke, E. Mengel, J. M. Strotmann, D. G. Warnock, and A. Linhart.

A Validated Disease Severity Scoring System for Fabry Disease

Kruger, R., K. Bruns, S. Grunhage, H. Rossmann, J. Reinke, M. Beck, and K. J. Lackner. 

Determination of Globotriaosylceramide in Plasma and Urine by Mass Spectrometry

Mehta, A., M. Beck, F. Eyskens, C. Feliciani, I. Kantola, U. Ramaswami, A. Rolfs, A. Rivera, S. Waldek, and D.P. Germain.

Fabry Disease: A Review of Current Management Strategies

Shemesh, T., C. Whybra, S. Delgado-Sanchez, M. Beck, D. Elstein, and G. Altarescu.

Paraoxonase (Pon1) Gene Polymorphisms in Fabry Disease: Correlation with Renal Disease

Clarke, J. T., R. Giugliani, G. Sunder-Plassmann, P. M. Elliott, G. Pintos-Morell, E. Hernberg-Stahl, M. Malmenas, M. Beck, and F. O. S. Investigators.

Impact of Measures to Enhance the Value of Observational Surveys in Rare Diseases: The Fabry Outcome Survey (Fos)

Ramaswami, U., R. Parini, C. Kampmann, and M. Beck

Safety of Agalsidase Alfa in Patients with Fabry Disease under 7 Years

Schermuly, I., M. J. Muller, K. M. Muller, J. Albrecht, I. Keller, I. Yakushev, M. Beck, and A. Fellgiebel

Neuropsychiatric Symptoms and Brain Structural Alterations in Fabry Disease

Gal, A., M. Beck, and B. Winchester.

Clinical Utility Gene Card For: Fabry Disease

Kruger, R., A. Tholey, T. Jakoby, R. Vogelsberger, R. Monnikes, H. Rossmann, M. Beck, and K. J. Lackner.

Quantification of the Fabry Marker Lysogb3 in Human Plasma by Tandem Mass Spectrometry

Ramaswami, U., R. Parini, G. Pintos-Morell, G. Kalkum, C. Kampmann, M. Beck, and F. O. S. Investigators

abry Disease in Children and Response to Enzyme Replacement Therapy: Results from the Fabry Outcome Survey

Ramaswami, U., D. E. Stull, R. Parini, G. Pintos-Morell, C. Whybra, G. Kalkum, M. Rohrbach, M. Raluy-Callado, M. Beck, W. H. Chen, I. Wiklund, and F. O. S. Investigators.

Measuring Patient Experiences in Fabry Disease: Validation of the Fabry-Specific Pediatric Health and Pain Questionnaire (Fphpq)

Beck, M., J. Gaedeke, P. Martus, N. Karabul, and A. Rolfs.

Home-Based Infusion Therapy--a Feasible Approach for Chronically Ill Patients? A New Path to Provide Superior Patient Care Exemplified for Fabry's Disease

Kampmann, C., G. Kalkum, M. Beck, and C. Whybra.

Successful Long-Term Enzyme Replacement Therapy in a Young Adult with Fabry Disease

Beck, M., D. Hughes, C. Kampmann, S. Larroque, A. Mehta, G. Pintos-Morell, U. Ramaswami, M. West, A. Wijatyk, R. Giugliani, and Group Fabry Outcome Survey Study.

Long-Term Effectiveness of Agalsidase Alfa Enzyme Replacement in Fabry Disease: A Fabry Outcome Survey Analysis

Kampmann, C., A. Perrin, and M. Beck.

Effectiveness of Agalsidase Alfa Enzyme Replacement in Fabry Disease: Cardiac Outcomes after 10 Years' Treatment

Lelieveld, I. M., A. Bottcher, J. B. Hennermann, M. Beck, and A. Fellgiebel.

Eight-Year Follow-up of Neuropsychiatric Symptoms and Brain Structural Changes in Fabry Disease

Lenders, M., N. Karabul, T. Duning, B. Schmitz, M. Schelleckes, R. Mesters, H. W. Hense, M. Beck, S. M. Brand, and E. Brand.

Thromboembolic Events in Fabry Disease and the Impact of Factor V Leiden

Pitz, S., G. Kalkum, L. Arash, N. Karabul, A. Sodi, S. Larroque, M. Beck, and A. Gal.

Ocular Signs Correlate Well with Disease Severity and Genotype in Fabry Disease

Giugliani, R. D. M. Niu, U. Ramaswami, M. West, D. Hughes, Ch. Kampmann, G. Pintos-Morell, K. Nicholls, J. M. Schenk, and M. Beck.

A 15-Year Perspective of the Fabry Outcome Survey

Kalkum, G., S. Pitz, N. Karabul, M. Beck, G. Pintos-Morell, R. Parini, M. Rohrbach, S. Bizjajeva, and U. Ramaswami

Paediatric Fabry Disease: Prognostic Significance of Ocular Changes for Disease Severity

Gal, A., M. Beck, W. Hoppner, and D. P. Germain.

Clinical Utility Gene Card For: Fabry Disease - Update 2016

Beck, M. and T. M. Cox.

Comment: Why Are Females with Fabry Disease Affected?

Ramaswami, U., M. Beck, D. Hughes, C. Kampmann, J. Botha, G. Pintos-Morell, M. L. West, D. M. Niu, K. Nicholls, R. Giugliani, and F. O. S. Study Group.

Cardio- Renal Outcomes with Long- Term Agalsidase Alfa Enzyme Replacement Therapy: A 10- Year Fabry Outcome Survey (Fos) Analysis

### 

Moreno-Martinez, D., P. Aguiar, C. Auray-Blais, M. Beck, D. G. Bichet, A. Burlina, D. Cole, P. Elliott, U. Feldt-Rasmussen, S. Feriozzi, J. Fletcher, R. Giugliani, A. Jovanovic, C. Kampmann, M. Langeveld, O. Lidove, A. Linhart, M. Mauer, J. C. Moon, A. Muir, A. Nowak, J. P. Oliveira, A. Ortiz, G. Pintos-Morell, J. Politei, P. Rozenfeld, R. Schiffmann, E. Svarstad, A. S. Talbot, M. Thomas, C. Tondel, D. Warnock, M. L. West, and D. A. Hughes. 

Standardising Clinical Outcomes Measures for Adult Clinical Trials in Fabry Disease: A Global Delphi Consensus

Bunge, S., W. J. Kleijer, C. Steglich, M. Beck, C. Zuther, C. P. Morris, E. Schwinger, J. J. Hopwood, H. S. Scott, and A. Gal.

Mucopolysaccharidosis Type I: Identification of 8 Novel Mutations and Determination of the Frequency of the Two Common Alpha-L-Iduronidase Mutations (W402x and Q70x) among European Patients

Bunge, S., W. J. Kleijer, C. Steglich, M. Beck, E. Schwinger, and A. Gal.

Mucopolysaccharidosis Type I: Identification of 13 Novel Mutations of the Alpha-L-Iduronidase Gene

de Ru, M. H., Q. G. Teunissen, J. H. van der Lee, M. Beck, O. A. Bodamer, L. A. Clarke, C. E. Hollak, S. P. Lin, M. V. Rojas, G. M. Pastores, J. A. Raiman, M. Scarpa, E. P. Treacy, A. Tylki-Szymanska, J. E. Wraith, J. Zeman, and F. A. Wijburg.

Capturing Phenotypic Heterogeneity in Mps I: Results of an International Consensus Procedure

Muenzer, J., R. Giugliani, M. Scarpa, A. Tylki-Szymanska, V. Jego, and M. Beck.

Clinical Outcomes in Idursulfase-Treated Patients with Mucopolysaccharidosis Type Ii: 3-Year Data from the Hunter Outcome Survey (Hos)

Muenzer, J., S. A. Jones, A. Tylki-Szymanska, P. Harmatz, N. J. Mendelsohn, N. Guffon, R. Giugliani, B. K. Burton, M. Scarpa, M. Beck, Y. Jangelind, E. Hernberg-Stahl, M. P. Larsen, T. Pulles, and D. A. H. Whiteman.

Ten Years of the Hunter Outcome Survey (Hos): Insights, Achievements, and Lessons Learned from a Global Patient Registry

Scarpa, M., Z. Almassy, M. Beck, O. Bodamer, I. A. Bruce, L. De Meirleir, N. Guffon, E. Guillen-Navarro, P. Hensman, S. Jones, W. Kamin, C. Kampmann, C. Lampe, C. A. Lavery, E. L. Teles, B. Link, A. M. Lund, G. Malm, S. Pitz, M. Rothera, C. Stewart, A. Tylki-Szymanska, A. van der Ploeg, R. Walker, J. Zeman, J. E. Wraith, and Council Hunter Syndrome Europena Expert.

Mucopolysaccharidosis Type Ii: European Recommendations for the Diagnosis and Multidisciplinary Management of a Rare Disease

Hoffmann, B., G. Schulze-Frenking, S. Al-Sawaf, M. Beck, and E. Mayatepek.

Hunter Disease before and During Enzyme Replacement Therapy

Rathmann, M., S. Bunge, M. Beck, H. Kresse, A. Tylki-Szymanska, and A. Gal.

Mucopolysaccharidosis Type Ii (Hunter Syndrome): Mutation "Hot Spots" in the Iduronate-2-Sulfatase Gene

Wraith, J. E., M. Scarpa, M. Beck, O. A. Bodamer, L. De Meirleir, N. Guffon, A. Meldgaard Lund, G. Malm, A. T. Van der Ploeg, and J. Zeman.

Mucopolysaccharidosis Type Ii (Hunter Syndrome): A Clinical Review and Recommendations for Treatment in the Era of Enzyme Replacement Therapy

Wraith, J. E., M. Beck, R. Giugliani, J. Clarke, R. Martin, J. Muenzer, and H. O. S. Investigators.

Initial Report from the Hunter Outcome Survey

Jones, S. A., Z. Almassy, M. Beck, K. Burt, J. T. Clarke, R. Giugliani, C. Hendriksz, T. Kroepfl, L. Lavery, S. P. Lin, G. Malm, U. Ramaswami, R. Tincheva, J. E. Wraith, and H. O. S. Investigators.

Mortality and Cause of Death in Mucopolysaccharidosis Type Ii-a Historical Review Based on Data from the Hunter Outcome Survey (Hos)

Elcioglu, N. H., B. Pawlik, B. Colak, M. Beck, and B. Wollnik. 

A Novel Loss-of-Function Mutation in the Gns Gene Causes Sanfilippo Syndrome Type D

Bunge, S., A. Knigge, C. Steglich, W. J. Kleijer, O. P. van Diggelen, M. Beck, and A. Gal. 

Mucopolysaccharidosis Type Iiib (Sanfilippo B): Identification of 18 Novel Alpha-N-Acetylglucosaminidase Gene Mutations

Hendriksz, C. J., P. Harmatz, M. Beck, S. Jones, T. Wood, R. Lachman, C. G. Gravance, T. Orii, and S. Tomatsu.

Review of Clinical Presentation and Diagnosis of Mucopolysaccharidosis Iva

Wood, T. C., K. Harvey, M. Beck, M. G. Burin, Y. H. Chien, H. J. Church, V. D'Almeida, O. P. van Diggelen, M. Fietz, R. Giugliani, P. Harmatz, S. M. Hawley, W. L. Hwu, D. Ketteridge, Z. Lukacs, N. Miller, M. Pasquali, A. Schenone, J. N. Thompson, K. Tylee, C. Yu, and C. J. Hendriksz. 

Diagnosing Mucopolysaccharidosis Iva

Mollmann, C., C. G. Lampe, W. Muller-Forell, M. Scarpa, P. Harmatz, M. Schwarz, M. Beck, and C. Lampe.

Development of a Scoring System to Evaluate the Severity of Craniocervical Spinal Cord Compression in Patients with Mucopolysaccharidosis Iva (Morquio a Syndrome)

Solanki, G. A., K. W. Martin, M. C. Theroux, C. Lampe, K. K. White, R. Shediac, C. G. Lampe, M. Beck, W. G. Mackenzie, C. J. Hendriksz, and P. R. Harmatz.

Spinal Involvement in Mucopolysaccharidosis Iva (Morquio-Brailsford or Morquio a Syndrome): Presentation, Diagnosis and Management

Hofer, D., K. Paul, K. Fantur, M. Beck, F. Burger, C. Caillaud, K. Fumic, J. Ledvinova, A. Lugowska, H. Michelakakis, B. Radeva, U. Ramaswami, B. Plecko, and E. Paschke.

Gm1 Gangliosidosis and Morquio B Disease: Expression Analysis of Missense Mutations Affecting the Catalytic Site of Acid Beta-Galactosidase

Paschke, E., I. Milos, H. Kreimer-Erlacher, G. Hoefler, M. Beck, M. Hoeltzenbein, W. Kleijer, T. Levade, H. Michelakakis, and B. Radeva.

Mutation Analyses in 17 Patients with Deficiency in Acid Beta-Galactosidase: Three Novel Point Mutations and High Correlation of Mutation W273l with Morquio Disease Type B

Beck, M., E. M. Petersen, J. Spranger, and P. Beighton.

Morquio's Disease Type B (Beta-Galactosidase Deficiency) in Three Siblings

Beck, M., S. Braun, W. Coerdt, E. Merz, E. Young, and A. C. Sewell.

Fetal Presentation of Morquio Disease Type A

Bunge, S., W. J. Kleijer, A. Tylki-Szymanska, C. Steglich, M. Beck, S. Tomatsu, S. Fukuda, B. J. Poorthuis, B. Czartoryska, T. Orii, and A. Gal.

Identification of 31 Novel Mutations in the N-Acetylgalactosamine-6-Sulfatase Gene Reveals Excessive Allelic Heterogeneity among Patients with Morquio a Syndrome

Beck, M., J. Glossl, A. Grubisic, and J. Spranger.

Heterogeneity of Morquio Disease

Braunlin, E., H. Rosenfeld, C. Kampmann, J. Johnson, M. Beck, R. Giugliani, N. Guffon, D. Ketteridge, C. M. Sa Miranda, M. Scarpa, I. V. Schwartz, E. Leao Teles, J. E. Wraith, P. Barrios, E. Dias da Silva, G. Kurio, M. Richardson, G. Gildengorin, J. J. Hopwood, M. Imperiale, A. Schatz, C. Decker, P. Harmatz, and Mps Vi Study Group.

Enzyme Replacement Therapy for Mucopolysaccharidosis Vi: Long-Term Cardiac Effects of Galsulfase (Naglazyme(R)) Therapy

Karageorgos, L., D. A. Brooks, A. Pollard, E. L. Melville, L. K. Hein, P. R. Clements, D. Ketteridge, S. J. Swiedler, M. Beck, R. Giugliani, P. Harmatz, J. E. Wraith, N. Guffon, E. Leao Teles, M. C. Sa Miranda, and J. J. Hopwood.

Mutational Analysis of 105 Mucopolysaccharidosis Type Vi Patients

Beck, M

Galsulfase: Enzyme-Replacement Therapy for Mucopolysaccharidosis Type Vi (Maroteaux-Lamy Syndrome)

Kottler, U., D. Demir, I. Schmidtmann, M. Beck, and S. Pitz.

Central Corneal Thickness in Mucopolysaccharidosis Ii and Vi

Harmatz, P., Z. F. Yu, R. Giugliani, I. V. Schwartz, N. Guffon, E. L. Teles, M. C. Miranda, J. E. Wraith, M. Beck, L. Arash, M. Scarpa, D. Ketteridge, J. J. Hopwood, B. Plecko, R. Steiner, C. B. Whitley, P. Kaplan, S. J. Swiedler, K. Hardy, K. I. Berger, and C. Decker.

Enzyme Replacement Therapy for Mucopolysaccharidosis Vi: Evaluation of Long-Term Pulmonary Function in Patients Treated with Recombinant Human N-Acetylgalactosamine 4-Sulfatase

Harmatz, P., R. Giugliani, I. V. Schwartz, N. Guffon, E. L. Teles, M. C. Miranda, J. E. Wraith, M. Beck, L. Arash, M. Scarpa, D. Ketteridge, J. J. Hopwood, B. Plecko, R. Steiner, C. B. Whitley, P. Kaplan, Z. F. Yu, S. J. Swiedler, C. Decker, and Mps Vi Study Group.

Long-Term Follow-up of Endurance and Safety Outcomes During Enzyme Replacement Therapy for Mucopolysaccharidosis Vi: Final Results of Three Clinical Studies of Recombinant Human N-Acetylgalactosamine 4-Sulfatase

Harmatz, P., R. Giugliani, I. Schwartz, N. Guffon, E. L. Teles, M. C. Miranda, J. E. Wraith, M. Beck, L. Arash, M. Scarpa, Z. F. Yu, J. Wittes, K. I. Berger, M. S. Newman, A. M. Lowe, E. Kakkis, S. J. Swiedler, and Mps Vi Phase 3 Study Group.

Enzyme Replacement Therapy for Mucopolysaccharidosis Vi: A Phase 3, Randomized, Double-Blind, Placebo-Controlled, Multinational Study of Recombinant Human N-Acetylgalactosamine 4-Sulfatase (Recombinant Human Arylsulfatase B or Rhasb) and Follow-on, Open-L

Swiedler, S. J., M. Beck, M. Bajbouj, R. Giugliani, I. Schwartz, P. Harmatz, J. E. Wraith, J. Roberts, D. Ketteridge, J. J. Hopwood, N. Guffon, M. C. Sa Miranda, E. L. Teles, K. I. Berger, and C. Piscia-Nichols.

Threshold Effect of Urinary Glycosaminoglycans and the Walk Test as Indicators of Disease Progression in a Survey of Subjects with Mucopolysaccharidosis Vi (Maroteaux-Lamy Syndrome)

Montano, A. M., N. Lock-Hock, R. D. Steiner, B. H. Graham, M. Szlago, R. Greenstein, M. Pineda, A. Gonzalez-Meneses, M. Coker, D. Bartholomew, M. S. Sands, R. Wang, R. Giugliani, A. Macaya, G. Pastores, A. K. Ketko, F. Ezgu, A. Tanaka, L. Arash, M. Beck, R. E. Falk, K. Bhattacharya, J. Franco, K. K. White, G. A. Mitchell, L. Cimbalistiene, M. Holtz, and W. S. Sly.

Clinical Course of Sly Syndrome (Mucopolysaccharidosis Type Vii)

Beck, M., R. Barone, R. Hoffmann, W. Kratzer, T. Rakowsky, F. Nigro, and A. Fiumara.

Inter- and Intrafamilial Variability in Mucolipidosis Ii (I-Cell Disease)

Tomatsu, S., M. A. Gutierrez, T. Ishimaru, O. M. Pena, A. M. Montano, H. Maeda, S. Velez-Castrillon, T. Nishioka, A. A. Fachel, A. Cooper, M. Thornley, E. Wraith, L. A. Barrera, L. S. Laybauer, R. Giugliani, I. V. Schwartz, G. S. Frenking, M. Beck, S. G. Kircher, E. Paschke, S. Yamaguchi, K. Ullrich, K. Isogai, Y. Suzuki, T. Orii, and A. Noguchi.

Heparan Sulfate Levels in Mucopolysaccharidoses and Mucolipidoses

Cathey, S. S., M. Kudo, S. Tiede, A. Raas-Rothschild, T. Braulke, M. Beck, H. A. Taylor, W. M. Canfield, J. G. Leroy, E. F. Neufeld, and V. A. McKusick.

Molecular Order in Mucolipidosis Ii and Iii Nomenclature

Beck, M., S. W. Bender, H. L. Reiter, W. Otto, R. Bassler, H. Dancygier, and J. Gehler.

Neuraminidase Deficiency Presenting as Non-Immune Hydrops Fetalis

Beck, M., E. Scheuring, H. U. Voelter, J. Brandt, and K. Harzer.

Neuraminidase Assay in Cultured Human Fibroblasts: In Situ Versus in Vitro Procedures

Tekinalp, G., D. Aliefendioglu, A. Yuce, M. Caglar, and M. Beck.

A Case with Early Infantile Form of Galactosialidosis with Unusual Haematological Findings

Penzel, R., J. Uhl, J. Kopitz, M. Beck, H. F. Otto, and M. Cantz.

Splice Donor Site Mutation in the Lysosomal Neuraminidase Gene Causing Exon Skipping and Complete Loss of Enzyme Activity in a Sialidosis Patient

At present we have no literature available.