SphinCS - Clinical Science for LSD

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Das Team von SphinCS

Geschäftsführer

Dr. Eugen Mengel

Principal Investigator, Gründer und CEO der SphinCS GmbH & SphinCS Lyso gemeinnützige UG. Dr. Mengel hat sich der Forschung auf dem Gebiet der LSDs gewidmet und massgeblich zur Weiterentwicklung dieses Forschungsgebietes beigetragen. 

Dr. Eugen Mengel | SphinCS - Clinical Science for LSD

Berater

Prof. Dr. Michael Beck

Dr. Beck verfügt über einen breiten wissenschaftlichen Hintergrund in den Bereichen: Medizin, Pädiatrie, Biochemie und Humangenetik. Er hat international großen Einfluss auf die Weiterentwicklung des Studiengebiets der LSDs. Bei SphinCS arbeitet er als Berater. 

Prof. Dr. Michael Beck | SphinCS - Clinical Science for LSD

Leitung & Koordination

Petra Kleinhans

Petra Kleinhans ist examinierte Fachkinderkrankenschwester und arbeitet seit über 16 Jahren im Bereich der lysosomalen Speicherkrankheiten. In diesem Zeitraum entwickelte sie ihre Expertise in klinischen Studien von Phase I-IV. Neben der Studienkoordination und dem Studien Management gehört die Projektentwicklung zu ihre Haupttätigkeit.
Am Standort Hochheim organisiert die Mitbegründerin der SphinCS Studien der Seltenen bis Ultraseltenen Krankheiten.

Petra Kleinhans | SphinCS - Clinical Science for LSD

Ärztliche Studienleitung | Fachärztin für Kinder- und Jugendmedizin

Dr. med. Yasmina Amraoui

Frau Dr. Amraoui verfügt über eine 15-jährige Expertise in der Diagnostik, Betreuung und Behandlung von Patienten mit lysosomalen Stoffwechselerkrankungen, die sie während ihrer Tätigkeit als Fachärztin für Kinder- und Jugendmedizin an der Universitätsmedizin Mainz erwarb. Fr. Dr. Amraoui nahm als Prüfärztin an über 30 klinischen Studien teil und war maßgeblich an der Erforschung verschiedener lysosomaler Speichererkrankungen und der Zulassung verschiedener Medikamente beteiligt. Seit Oktober 2019 verstärkt Frau Dr. Amraoui mit ihrer hohen fachlichen Kompetenz als Prüfärztin das Team der SphinCS. Zu ihren Tätigkeiten gehören neben der Leitung und Durchführung von klinischen Studien die Projektentwicklung. 

Dr. med. Yasmina Amraoui  | SphinCS - Clinical Science for LSD

Ärztin

Dr. Grecia Mendoza Rios

Nach Abschluss ihres Medizinstudiums an der mexikanischen Universität Michoacan of Saint Nicholas of Hidalgo arbeitete Frau Rios als Notärztin. Seit 2020 gehört sie zum SphinCS-Team. 

Dr. Grecia Mendoza Rios | SphinCS - Clinical Science for LSD

Studienkoordinatorin

Loreen Gramsch

Loreen Gramsch ist examinierte Kinderkrankenschwester und absolvierte 2011 berufsbegleitend eine ½ jährige Ausbildung zur Studienassistentin. Seit 2009 arbeitet sie als Studienkoordinatorin in klinischen Studien der Phasen I-IV. Sie eignete sich in den letzten 4 Jahren eine hohe fachliche Kompetenz auf dem Gebiet der lysosomalen Speichererkrankungen an. Seit April 2020 verstärkt Frau Gramsch mit ihrer Expertise als Studienkoordinatorin das Team der SphinCS. Zu ihren Tätigkeiten gehören neben der Koordination und Durchführung von klinischen Studien die Projektentwicklung.

Loreen Gramsch | SphinCS - Clinical Science for LSD

Zertifizierte Prüfärztin für klinische Studien

Dr. med. Verena Schädlich

Nach der Ausbildung zur Kinderkrankenschwester sammelte Frau Dr. Schädlich bereits 2003 als Studienassistentin erste Erfahrungen in dem Bereich LSD in der Arbeitsgruppe von Prof. Beck und Dr. Mengel und promovierte in diesem Bereich zum Thema Morbus Gaucher. Im Anschluss an das Medizinstudium war sie einige Jahre als Ärztin in der Anästhesie und Intensivmedizin tätig, bevor sie 2016 als Research Physician in die klinischen Forschung wechselte. Seit September 2020 verstärkt sie nun nach 17 Jahren wieder Dr. Eugen Mengel und das SphinCS Team als zertifizierte Prüfärztin für klinische Studien.

Dr. med. Verena Schädlich | SphinCS - Clinical Science for LSD

Literatur

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

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