Michael Beck

Summary

Affiliation: University of Mainz
Country: Germany

Publications

  1. ncbi request reprint Anderson-Fabry disease: clinical manifestations of disease in female heterozygotes
    C Whybra
    Children's Hospital, University of Mainz, University Hospital Hamburg-Eppendorf, Germany
    J Inherit Metab Dis 24:715-24. 2001
  2. ncbi request reprint Enzyme replacement therapy in heterozygous females with Fabry disease: results of a phase IIIB study
    F Baehner
    Children s Hospital, Johannes Gutenberg University, Mainz, Germany
    J Inherit Metab Dis 26:617-27. 2003
  3. ncbi request reprint Cumulative incidence rates of the mucopolysaccharidoses in Germany
    F Baehner
    Children s Hospital, Johannes Gutenberg University of Mainz, Hamburg, Germany
    J Inherit Metab Dis 28:1011-7. 2005
  4. ncbi request reprint Assessing multiorgan disease severity: scoring systems and applicability in LSDs
    Michael Beck
    Children s Hospital, University of Mainz, Germany
    Acta Paediatr Suppl 95:41-2. 2006
  5. ncbi request reprint IgA nephropathy in two adolescent sisters heterozygous for Fabry disease
    Catharina Whybra
    Children s Hospital, University of Mainz, Langenbeckstr 1, 55131, Mainz, Germany
    Pediatr Nephrol 21:1251-6. 2006
  6. pmc Measuring patient experiences in Fabry disease: validation of the Fabry-specific Pediatric Health and Pain Questionnaire (FPHPQ)
    Uma Ramaswami
    The Willink Biochemical Genetics Unit, Genetic Medicine, St Mary s Hospital, Manchester, UK
    Health Qual Life Outcomes 10:116. 2012
  7. pmc Capturing phenotypic heterogeneity in MPS I: results of an international consensus procedure
    Minke H de Ru
    Department of Paediatrics, Academic Medical Center, University Hospital of Amsterdam H7 270, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands
    Orphanet J Rare Dis 7:22. 2012
  8. ncbi request reprint Mucopolysaccharidosis Type II (Hunter Syndrome): clinical picture and treatment
    Michael Beck
    Children s Hospital, University of Mainz, Langenbeckstrasse, Germany
    Curr Pharm Biotechnol 12:861-6. 2011
  9. doi request reprint Emerging drugs for lysosomal storage diseases
    Michael Beck
    University of Mainz, Children s Hospital, Langenbeckstrasse 1, Mainz, Germany
    Expert Opin Emerg Drugs 15:495-507. 2010
  10. ncbi request reprint Fabry disease: overall effects of agalsidase alfa treatment
    M Beck
    Department of Paediatrics, University of Mainz, Mainz, Germany
    Eur J Clin Invest 34:838-44. 2004

Detail Information

Publications90

  1. ncbi request reprint Anderson-Fabry disease: clinical manifestations of disease in female heterozygotes
    C Whybra
    Children's Hospital, University of Mainz, University Hospital Hamburg-Eppendorf, Germany
    J Inherit Metab Dis 24:715-24. 2001
    ..It therefore appears that Anderson-Fabry disease affects both hemizygotes and heterozyotes and therefore should be considered to be an X-linked dominant disease...
  2. ncbi request reprint Enzyme replacement therapy in heterozygous females with Fabry disease: results of a phase IIIB study
    F Baehner
    Children s Hospital, Johannes Gutenberg University, Mainz, Germany
    J Inherit Metab Dis 26:617-27. 2003
    ..We conclude that enzyme replacement therapy with agalsidase alfa was safe and effective in female patients heterozygous for Fabry disease...
  3. ncbi request reprint Cumulative incidence rates of the mucopolysaccharidoses in Germany
    F Baehner
    Children s Hospital, Johannes Gutenberg University of Mainz, Hamburg, Germany
    J Inherit Metab Dis 28:1011-7. 2005
    ..4-4.5 in 100,000 live births) were similar among all published populations; however, different frequencies of the various forms of MPS were observed...
  4. ncbi request reprint Assessing multiorgan disease severity: scoring systems and applicability in LSDs
    Michael Beck
    Children s Hospital, University of Mainz, Germany
    Acta Paediatr Suppl 95:41-2. 2006
  5. ncbi request reprint IgA nephropathy in two adolescent sisters heterozygous for Fabry disease
    Catharina Whybra
    Children s Hospital, University of Mainz, Langenbeckstr 1, 55131, Mainz, Germany
    Pediatr Nephrol 21:1251-6. 2006
    ..These two cases and similar reports in the literature suggest that IgA nephropathy in FD is not merely coincidental...
  6. pmc Measuring patient experiences in Fabry disease: validation of the Fabry-specific Pediatric Health and Pain Questionnaire (FPHPQ)
    Uma Ramaswami
    The Willink Biochemical Genetics Unit, Genetic Medicine, St Mary s Hospital, Manchester, UK
    Health Qual Life Outcomes 10:116. 2012
    ..Common symptoms for children with Anderson-Fabry Disease (FD) such as acroparaesthesia and gastrointestinal manifestations can only be objectively assessed in patients using a valid instrument. To date, no such instrument exists...
  7. pmc Capturing phenotypic heterogeneity in MPS I: results of an international consensus procedure
    Minke H de Ru
    Department of Paediatrics, Academic Medical Center, University Hospital of Amsterdam H7 270, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands
    Orphanet J Rare Dis 7:22. 2012
    ..Therefore, a numerical severity scale for classifying different MPS I phenotypes at diagnosis based on clinical signs and symptoms was developed...
  8. ncbi request reprint Mucopolysaccharidosis Type II (Hunter Syndrome): clinical picture and treatment
    Michael Beck
    Children s Hospital, University of Mainz, Langenbeckstrasse, Germany
    Curr Pharm Biotechnol 12:861-6. 2011
    ..This review will present the efficacy and safety data of the enzyme preparation and discuss benefits and limitations of this new therapeutic option...
  9. doi request reprint Emerging drugs for lysosomal storage diseases
    Michael Beck
    University of Mainz, Children s Hospital, Langenbeckstrasse 1, Mainz, Germany
    Expert Opin Emerg Drugs 15:495-507. 2010
    ....
  10. ncbi request reprint Fabry disease: overall effects of agalsidase alfa treatment
    M Beck
    Department of Paediatrics, University of Mainz, Mainz, Germany
    Eur J Clin Invest 34:838-44. 2004
    ..This paper presents the first analysis of the FOS database on the effects of ERT on renal function, heart size, pain and quality of life...
  11. ncbi request reprint The Mainz Severity Score Index (MSSI): development and validation of a system for scoring the signs and symptoms of Fabry disease
    Michael Beck
    Children s Hospital, University of Mainz, Germany
    Acta Paediatr Suppl 95:43-6. 2006
    ..This paper describes the development of the Mainz Severity Score Index (MSSI), a scoring system for patients with Fabry disease...
  12. doi request reprint Therapy for lysosomal storage disorders
    Michael Beck
    Children s Hospital, University of Mainz, Dept Lysosomal Storage Disorders, Langenbeckstrasse 1, 55101 Mainz, Germany
    IUBMB Life 62:33-40. 2010
    ....
  13. ncbi request reprint Update on mucopolysaccharidosis type II
    Michael Beck
    Children s Hospital, University of Mainz, Mainz, Germany
    Acta Paediatr Suppl 96:55. 2007
  14. ncbi request reprint Agalsidase alfa for the treatment of Fabry disease: new data on clinical efficacy and safety
    Michael Beck
    University of Mainz, Children s Hospital, Langenbeckstrasse 1, 55101 Mainz, Germany
    Expert Opin Biol Ther 9:255-61. 2009
    ..The lack of enzyme activity leads to progressive depositions of undegraded glycolipids in a great number of organs, resulting in a multisystemic disorder...
  15. ncbi request reprint Agalsidase alfa--a preparation for enzyme replacement therapy in Anderson-Fabry disease
    Michael Beck
    Children s Hospital, University of Mainz, Langenbeckstrasse 1, 55101 Mainz, Germany
    Expert Opin Investig Drugs 11:851-8. 2002
    ..These are agalsidase beta (Fabrazyme, Genzyme Corporation) and agalsidase alfa (Replagal, Transkaryotic Therapies, Inc.). This review will describe clinical efficacy, safety and tolerability of agalsidase alfa...
  16. ncbi request reprint New therapeutic options for lysosomal storage disorders: enzyme replacement, small molecules and gene therapy
    Michael Beck
    Children Hospital, University of Mainz, Langenbeckstrasse 1, 55101 Mainz, Germany
    Hum Genet 121:1-22. 2007
    ..This review will give an insight into these newly developed therapeutic strategies and will discuss their advantages and limitations...
  17. ncbi request reprint Variable clinical presentation in lysosomal storage disorders
    M Beck
    Children s Hospital, University of Mainz, Germany
    J Inherit Metab Dis 24:47-51; discussion 45-6. 2001
    ..The presence of different mutations is only part of the explanation, as intrafamilial variability is observed in many cases. Other mechanisms, for example the effect of specific activators, may also have an influence on phenotype...
  18. doi request reprint Villa Metabolica - a center of excellence for the diagnosis and treatment of lysosomal storage disorders
    Michael Beck
    Children s Hospital, University of Mainz, Mainz, Germany
    Wien Med Wochenschr 160:625-6. 2010
    ..This short communication will give an introduction of the activities of this institution...
  19. doi request reprint A 4-year study of the efficacy and tolerability of enzyme replacement therapy with agalsidase alfa in 36 women with Fabry disease
    Catharina Whybra
    Center for Lysosomal Storage Diseases, Children s Hospital of Johannes Gutenberg University, Mainz, Germany
    Genet Med 11:441-9. 2009
    ..This prospective, single-center, open-label, clinical trial was performed to evaluate the long-term response of female patients with Fabry disease to enzyme replacement therapy...
  20. doi request reprint Does enzyme replacement therapy influence the ocular changes in type VI mucopolysaccharidosis?
    Susanne Pitz
    Department of Ophthalmology, Johannes Gutenberg University, Mainz, Germany
    Graefes Arch Clin Exp Ophthalmol 247:975-80. 2009
    ..To describe the ocular changes noted in seven patients with type VI mucopolysaccharidosis (MPS VI) during 44 months of follow-up while on enzyme replacement therapy (ERT)...
  21. doi request reprint Mucopolysaccharidosis VI: cardiac involvement and the impact of enzyme replacement therapy
    Christoph Kampmann
    Department of Paediatric Cardiology, Center of Pediatric and Adolescent Medicine, University Medical Center, Johannes Gutenberg University of Mainz, Mainz, Germany
    J Inherit Metab Dis 37:269-76. 2014
    ..To describe cardiac abnormalities in patients with mucopolysaccharidosis (MPS) VI and to evaluate the impact of enzyme replacement therapy (ERT) on cardiac structure and function...
  22. doi request reprint Quantification of the Fabry marker lysoGb3 in human plasma by tandem mass spectrometry
    Ralf Krüger
    Institute of Clinical Chemistry and Laboratory Medicine, Medical Center of the Johannes Gutenberg University, Mainz, Germany
    J Chromatogr B Analyt Technol Biomed Life Sci 883:128-35. 2012
    ..The new LC-MS/MS assay for the Fabry marker lysoGb3 shows good performance and allowed for better discrimination between Fabry patients and controls than Gb3...
  23. ncbi request reprint The early clinical phenotype of Fabry disease: a study on 35 European children and adolescents
    Markus Ries
    Centre for Lysosomal Storage Disorders, Children s Hospital, Johannes Gutenberg University, 55101 Mainz, Germany
    Eur J Pediatr 162:767-72. 2003
    ..Female patients are frequently affected at an early age, not much differently than males. They should be carefully examined because most carriers are symptomatic...
  24. doi request reprint Prevalence and characterization of cardiac involvement in Hunter syndrome
    Christoph Kampmann
    Division of Cardiology, University Children s Hospital, Mainz, Germany
    J Pediatr 159:327-31.e2. 2011
    ..To assess the prevalence of cardiovascular signs and symptoms in a large group of patients with Hunter syndrome, an X-linked metabolic disorder caused by a deficiency of the lysosomal enzyme iduronate-2-sulfatase...
  25. doi request reprint Cardiac manifestations of Anderson-Fabry disease in children and adolescents
    Christoph Kampmann
    Division of Cardiology, Division of Lysosomal Storage Diseases, University Children s Hospital, Mainz, Germany
    Acta Paediatr 97:463-9. 2008
    ..This study was performed to determine if signs of cardiac manifestations of Fabry are seen in younger Fabry patients...
  26. ncbi request reprint The Mainz Severity Score Index: a new instrument for quantifying the Anderson-Fabry disease phenotype, and the response of patients to enzyme replacement therapy
    C Whybra
    University Children s Hospital, University of Mainz, Mainz, Germany
    Clin Genet 65:299-307. 2004
    ..001) reduction in MSSI score (by a median of nine points). This study has shown that the MSSI score may be a useful, specific measure for objectively assessing the severity of AFD and for monitoring ERT-related treatment effects...
  27. pmc Paediatric Fabry disease: prognostic significance of ocular changes for disease severity
    Gisela Kalkum
    Department of Paediatrics, Helios Dr Horst Schmidt Kliniken HSK, Ludwig Erhard Strasse 100, 65199, Wiesbaden, Germany
    BMC Ophthalmol 16:202. 2016
    ..Ocular signs of Fabry disease can be seen in the first decade of life...
  28. pmc 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
    Catharina Whybra
    Department of Neonatology, University Medical Center of the Johannes Gutenberg University Mainz, Mainz, Germany
    Orphanet J Rare Dis 7:86. 2012
    ..Lysosomal storage disorders (LSD) are a rare cause of non immunological hydrops fetalis (NIHF) and congenital ascites. The reported incidence is about 1%. The incidence of idiopathic NIHF is estimated to be about 18%...
  29. ncbi request reprint Critical assessment of chitotriosidase analysis in the rational laboratory diagnosis of children with Gaucher disease and Niemann-Pick disease type A/B and C
    Markus Ries
    Center for Lysosomal Storage Disorders, Children s Hospital, University of Mainz, Mainz, Germany
    J Inherit Metab Dis 29:647-52. 2006
    ..We conclude that, in the above setting, the degree of elevation of chitotriosidase activity can be applied to increase the likelihood of GD, SMD, or NPC and guide the choice of the appropriate confirmatory assay...
  30. doi request reprint Central corneal thickness in mucopolysaccharidosis II and VI
    Ulrike Kottler
    Department of Ophthalmology, Mainz University Medical Center, Mainz, Germany
    Cornea 29:260-2. 2010
    ..To describe the ultrasonographically detected central corneal thickness (CCT) in patients with Type II and VI mucopolysaccharidosis (MPS) and its impact on applanation tonometry and glaucoma detection...
  31. pmc Ocular signs correlate well with disease severity and genotype in Fabry disease
    Susanne Pitz
    Department of Ophthalmology, University Medical Centre, Johannes Gutenberg University, Mainz, Germany
    PLoS ONE 10:e0120814. 2015
    ..Further confirmatory studies are needed. ..
  32. doi request reprint Determination of globotriaosylceramide in plasma and urine by mass spectrometry
    Ralf Krüger
    Institute of Clinical Chemistry and Laboratory Medicine, Medical Center of the Johannes Gutenberg University, Mainz, Germany
    Clin Chem Lab Med 48:189-98. 2010
    ..Concentrations of Gb3 in plasma and urine have been used to diagnose Fabry disease and to monitor enzyme replacement therapy with recombinant alpha-galactosidase...
  33. ncbi request reprint Ocular changes in patients with mucopolysaccharidosis I receiving enzyme replacement therapy: a 4-year experience
    Susanne Pitz
    Department of Ophthalmology, Johannes Gutenberg University, Langenbeckstrasse 1, D 55101 Mainz, Germany
    Arch Ophthalmol 125:1353-6. 2007
    ..To describe the progression of ocular changes in patients with mucopolysaccharidosis I receiving enzyme replacement therapy...
  34. doi request reprint [Effect of enzyme replacement therapy (ERT) on renal function of patients with Fabry's disease]
    Thomas Thomaidis
    I Medizinische Klinik, Universitätsmedizin der Johannes Gutenberg Universität Mainz, Mainz
    Med Klin (Munich) 104:699-703. 2009
    ..In any case, further studies to evaluate the long-term effect of ERT on the morbidity and mortality of patients with Fabry's disease are necessary...
  35. ncbi request reprint Cardiac involvement in Anderson-Fabry disease
    Christoph Kampmann
    Division of Cardiology, University Children s Hospital, Johannes Guterberg Universität, Langenbeckstrasse 1, D 55131 Mainz, Germany
    J Am Soc Nephrol 13:S147-9. 2002
  36. ncbi request reprint The heart in Anderson Fabry disease
    Christoph Kampmann
    Universitätskinderklinik Johannes Gutenberg Universität Langenbeckstr 1 55131 Mainz, Germany
    Z Kardiol 91:786-95. 2002
    ..Cardiac involvement in hetero- and hemizygotes will be discussed as well as the influence of enzyme replacement of alpha-galactosidase A...
  37. ncbi request reprint Pattern of microstructural brain tissue alterations in Fabry disease: a diffusion-tensor imaging study
    Andreas Fellgiebel
    Department of Psychiatry, University Hospital of Mainz, Untere Zahlbacher Strasse 8, 55131 Mainz, Germany
    J Neurol 253:780-7. 2006
    ..Moreover, this method could be favorable for longitudinal assessment of brain structure alterations in FD, and for monitoring the cerebral effects of enzyme replacement therapy...
  38. ncbi request reprint White matter lesion severity in male and female patients with Fabry disease
    A Fellgiebel
    Department of Psychiatry, University Hospital of Mainz, Untere Zahlbacher Str 8, 55131 Mainz, Germany
    Neurology 65:600-2. 2005
    ..The authors quantified the WML load of 13 male and 14 age-matched female patients with FD and could demonstrate a comparably high frequency and severity of WMLs in both groups...
  39. doi request reprint [Lysosomal storage diseases - update and new therapeutic options]
    K Schopfer
    Augenklinik und Poliklinik, Universitätsmedizin Mainz
    Klin Monbl Augenheilkd 228:144-60. 2011
    ..This review is intended to give a survey of the most common lysosomal storage diseases, particularly with regard to ophthalmological changes as well as illustrate new therapeutic options...
  40. ncbi request reprint [Hearing loss in patients with Fabry disease]
    A Limberger
    Klinik für HNO und Kommunikationsstörungen, Universitatsklinik Mainz, Mainz
    HNO 55:185-9. 2007
    ..Until now few details are available on hearing impairment in patients with Fabry disease, and especially few relating to female patients...
  41. doi request reprint Diagnostic utility of different MRI and MR angiography measures in Fabry disease
    A Fellgiebel
    Department of Psychiatry, University Hospital of Mainz, Untere Zahlbacher Str 8, 55131 Mainz, Germany
    Neurology 72:63-8. 2009
    ..To unravel the most promising imaging tool for the detection of CNS involvement in FD we compared the diagnostic utility of the different MR imaging findings...
  42. ncbi request reprint Abnormal somatosensory evoked potentials indicate compressive cervical myelopathy in mucopolysaccharidoses
    R Boor
    University Children s Hospital, Johannes Gutenberg University, Mainz, Germany
    Neuropediatrics 31:122-7. 2000
    ..However, we feel that the SEP analysis is useful to detect functional impairment of the cervical cord in patients with MPS...
  43. ncbi request reprint The right ventricle in Fabry disease
    C Kampmann
    Department of Cardiology, University Children s Hospital, Mainz, Germany
    Acta Paediatr Suppl 94:15-8; discussion 9-10. 2005
    ..To date, however, little is known about the role of right ventricular (RV) function in Fabry disease. Therefore, this study aimed to investigate the extent of RV involvement in patients with Fabry disease...
  44. ncbi request reprint Electrocardiographic signs of hypertrophy in fabry disease-associated hypertrophic cardiomyopathy
    C Kampmann
    University Children s Hospital, Mainz, Germany
    Acta Paediatr Suppl 91:21-7. 2002
    ..We aimed to evaluate the utility of different electrocardiographic (ECG) parameters for assessing the degree and severity of hypertrophic cardiomyopathy in patients with Fabry disease...
  45. ncbi request reprint Management of Life-Threatening Tracheal Stenosis and Tracheomalacia in Patients with Mucopolysaccharidoses
    Christoph Kampmann
    Center for Diseases in Childhood and Adolescence and Villa Metabolica, Mainz Medical University, Mainz, Germany
    JIMD Rep . 2016
    ..An updated literature review is also reported...
  46. doi request reprint Downregulation of alpha-galactosidase A upregulates CD77: functional impact for Fabry nephropathy
    Thomas Thomaidis
    First Department of Medicine, Johannes Gutenberg University Mainz, Mainz, RLP, Germany
    Kidney Int 75:399-407. 2009
    ....
  47. ncbi request reprint Successful pregnancy outcome in a patient with Fabry disease receiving enzyme replacement therapy with agalsidase alfa
    S Wendt
    Children s University Hospital Mainz, Mainz, Germany
    J Inherit Metab Dis 28:787-8. 2005
    ..Enzyme replacement therapy for this multisystem progressive disease has been available only since 2001. We here report the first known successful pregnancy of a female patient receiving such therapy...
  48. pmc The natural history of MPS I: global perspectives from the MPS I Registry
    Michael Beck
    Children s Hospital, University of Mainz, Mainz, Germany
    Genet Med 16:759-65. 2014
    ..In this study, we aimed to describe the natural history of mucopolysaccharidosis I...
  49. pmc Orthopedic manifestations in patients with mucopolysaccharidosis type II (Hunter syndrome) enrolled in the Hunter Outcome Survey
    Bianca Link
    Children s Hospital, Johannes Gutenberg University, Mainz, Germany
    Orthop Rev (Pavia) 2:e16. 2010
    ..Although some orthopedic manifestations associated with MPS II may be managed routinely, a good knowledge of other concurrent organ system involvement is essential. A multidisciplinary approach is required...
  50. ncbi request reprint Enzyme replacement therapy and renal function in 201 patients with Fabry disease
    A Schwarting
    Department of Nephrology, University of Mainz, Mainz, Germany
    Clin Nephrol 66:77-84. 2006
    ..We examined the effects of enzyme replacement therapy (ERT) with Agalsidase-alpha on renal function using data from a large international database, the Fabry Outcome Survey (FOS)...
  51. pmc Voxel based analyses of diffusion tensor imaging in Fabry disease
    J Albrecht
    Institute of Neuroradiology, Children s Hospital of the University of Mainz, Mainz, Germany
    J Neurol Neurosurg Psychiatry 78:964-9. 2007
    ..Fabry disease (FD) is a lysosomal storage disorder associated with marked cerebrovascular disease. Conventional MRI shows an extensive load of white matter lesions (WMLs) which may already be present at an early stage in the disease...
  52. pmc Effectiveness of agalsidase alfa enzyme replacement in Fabry disease: cardiac outcomes after 10 years' treatment
    Christoph Kampmann
    Section Head for Congenital Heart Defects, Center for Pediatric and Adolescent Medicine, University Medical Center, University of Mainz, Langenbeckstr 1, Mainz, DE 55101, Germany
    Orphanet J Rare Dis 10:125. 2015
    ..To explore long-term effects of agalsidase alfa on Fabry disease cardiomyopathy in adults...
  53. doi request reprint Thromboembolic events in Fabry disease and the impact of factor V Leiden
    Malte Lenders
    From Internal Medicine D, Department of Nephrology, Hypertension and Rheumatology M L, M S, E B, Department of Neurology T D, Institute of Sports Medicine, Molecular Genetics of Cardiovascular Disease B S, S M B, Internal Medicine A, Department of Hematology and Oncology R M, Institute of Epidemiology and Social Medicine H W H, University Hospital Muenster and Department of Pediatric and Adolescent Medicine N K, M B, Villa metabolica, University Medical Center of the Johannes Gutenberg University, University of Mainz, Germany
    Neurology 84:1009-16. 2015
    ....
  54. ncbi request reprint Evaluation of disease severity in mucopolysaccharidoses
    Michael Beck
    Children s Hospital, University of Mainz, Mainz, Germany
    J Pediatr Rehabil Med 3:39-46. 2010
    ..This paper discusses several of the available scoring systems for bone/skeletal disorders and their potential usefulness in patients with MPS...
  55. pmc 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
    Andreas Herzog
    Center for Pediatric and Adolescent Medicine, University Medical Center, Mainz, Germany
    Orphanet J Rare Dis 7:35. 2012
    ..2.1.20, Swiss-Prot P10253). Clinical manifestations are dominated by progressive weakness of skeletal muscle throughout the clinical spectrum. In addition, the classic infantile form is characterised by hypertrophic cardiomyopathy...
  56. ncbi request reprint 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
    Paul Harmatz
    Children s Hospital and Research Center at Oakland, California 94609, USA, and Children s Hospital, University of Mainz, Germany
    J Pediatr 148:533-539. 2006
    ....
  57. ncbi request reprint Cardiac manifestations of Anderson-Fabry disease in heterozygous females
    Christoph Kampmann
    Division of Cardiology, University Children s Hospital, Johannes Gutenberg University, Langenbeckstrasse 1, D 55131 Mainz, Germany
    J Am Coll Cardiol 40:1668-74. 2002
    ..We sought to define the prevalence of cardiac involvement in female patients with Anderson-Fabry disease (AFD)...
  58. ncbi request reprint The ratio of alpha-galactosidase to beta-glucuronidase activities in dried blood for the identification of female Fabry disease patients
    Z Lukacs
    Department of Paediatrics, Metabolic Laboratory, University Hospital Hamburg Eppendorf, Hamburg, Germany
    J Inherit Metab Dis 28:803-5. 2005
    ..The ratio of alpha-galactosidase to beta-glucuronidase proved to be a helpful tool for the diagnosis of female Fabry disease patients...
  59. ncbi request reprint Use of gabapentin to reduce chronic neuropathic pain in Fabry disease
    M Ries
    Centre for Lysosomal Storage Disorders, Children s Hospital, Mainz, Germany
    J Inherit Metab Dis 26:413-4. 2003
    ..Treatment was generally well tolerated. This study indicates that gabapentin should be considered as a treatment option for the neuropathic pain of Fabry disease...
  60. ncbi request reprint Enzyme-replacement therapy with agalsidase alfa in children with Fabry disease
    Markus Ries
    Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland 20892 1260, USA
    Pediatrics 118:924-32. 2006
    ..This prompted a study of the safety and efficacy of enzyme replacement at an earlier stage of Fabry disease...
  61. ncbi request reprint Anemia is a new complication in Fabry disease: data from the Fabry Outcome Survey
    Julia Kleinert
    Division of Nephrology and Dialysis, Department of Medicine III, Medical University Vienna, Vienna, Austria
    Kidney Int 67:1955-60. 2005
    ..The prevalence and causes of anemia among patients with Fabry disease are unknown...
  62. ncbi request reprint Nature and prevalence of pain in Fabry disease and its response to enzyme replacement therapy--a retrospective analysis from the Fabry Outcome Survey
    Bjoern Hoffmann
    University Children s Hospital, Heinrich Heine University Duesseldorf, Germany
    Clin J Pain 23:535-42. 2007
    ..Fabry disease is a multisystemic life-threatening lysosomal storage disorder caused by deficiency of alpha-galactosidase A. Symptoms of the disease may occur in different organs including kidney, heart, and the nervous system...
  63. ncbi request reprint 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)
    Stuart J Swiedler
    BioMarin Pharmaceutical Inc, Novato, California, USA
    Am J Med Genet A 134:144-50. 2005
    ..Pending the collection of longitudinal data, these results suggest that urinary GAG levels predict clinical morbidity, and longer-term survival is associated with urinary GAG levels below a threshold of 100 mug/mg creatinine...
  64. ncbi request reprint Enzyme replacement therapy for mucopolysaccharidosis I: a randomized, double-blinded, placebo-controlled, multinational study of recombinant human alpha-L-iduronidase (laronidase)
    James E Wraith
    Willink Biochemical Genetics Unit, Royal Manchester Children s Hospital, Manchester, United Kingdom
    J Pediatr 144:581-8. 2004
    ..To confirm the efficacy and safety of recombinant human alpha-L-iduronidase (laronidase) in patients with mucopolysaccharidosis I (MPS I)...
  65. ncbi request reprint Fabry disease: focus on cardiac manifestations and molecular mechanisms
    Andreas Perrot
    University Hospital Charite, Cardiology at Campus Virchow Klinikum and Campus Buch, Humboldt University Berlin, Germany
    Herz 27:699-702. 2002
    ..This enzyme replacement therapy could be one of the first examples for causal treatment of left ventricular hypertrophy. Therefore, early diagnosis of hypertrophy patients with the cardiac variant of Fabry disease is important...
  66. ncbi request reprint Cardiac manifestations of Anderson-Fabry disease: results from the international Fabry outcome survey
    Ales Linhart
    Second Department of Internal Medicine, First Faculty of Medicine, Charles University, Prague, Czech Republic
    Eur Heart J 28:1228-35. 2007
    ..The aim of this study was to determine the prevalence and characteristics of cardiac disease in AFD patients...
  67. ncbi request reprint An association study of inflammatory cytokine gene polymorphisms in Fabry disease
    Rachael Safyan
    Gaucher Clinic, Shaare Zedek Medical Center, PO Box 3235, Jerusalem 91031, Israel
    Eur Cytokine Netw 17:271-5. 2006
    ..The aim of the study was to evaluate functional gene polymorphisms of key pro- and anti-inflammatory cytokines and to correlate them to a clinical score to assess the potential role of inflammation in Fabry disease...
  68. ncbi request reprint Enzyme replacement therapy in patients who have mucopolysaccharidosis I and are younger than 5 years: results of a multinational study of recombinant human alpha-L-iduronidase (laronidase)
    J Edmond Wraith
    Royal Manchester Children s Hospital, Willink Biochemical Genetics Unit, Hospital Road, Pendlebury, Manchester M27 1HA, United Kingdom
    Pediatrics 120:e37-46. 2007
    ..Our objective was to evaluate the safety, pharmacokinetics, and efficacy of laronidase in young, severely affected children with mucopolysaccharidosis I...
  69. ncbi request reprint [Fabry disease: new clinical research--current therapeutic perspectives]
    Michael Beck
    Wien Klin Wochenschr 115:215-7. 2003
  70. ncbi request reprint Enzyme replacement in Fabry disease: pharmacokinetics and pharmacodynamics of agalsidase alpha in children and adolescents
    Markus Ries
    Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Building 10, Room 3D03, 9000 Rockville Pike, Bethesda, MD 20892 1260, USA
    J Clin Pharmacol 47:1222-30. 2007
    ..Except for clearance in younger patients, agalsidase alpha appears to have comparable pharmacokinetic and pharmacodynamic profiles in pediatric and adult Fabry patients of both genders...
  71. ncbi request reprint Disease manifestations and X inactivation in heterozygous females with Fabry disease
    Esther M Maier
    Research Centre, Department of Biochemical Genetics and Molecular Biology, Dr von Hauner Children s Hospital, Ludwig Maximilian University, Munich, Germany
    Acta Paediatr Suppl 95:30-8. 2006
    ..The current hypothesis for the occurrence of disease manifestations in females is skewed X inactivation favouring the mutant GLA allele...
  72. ncbi request reprint Clinical manifestations of Fabry disease in children: data from the Fabry Outcome Survey
    Uma Ramaswami
    Department of Paediatric Endocrinology, Diabetes and Metabolism, Addenbrooke s Hospital, Cambridge, UK
    Acta Paediatr 95:86-92. 2006
    ..This produces progressive lysosomal accumulation of globotriaosylceramide throughout the body, leading to organ failure and premature death...
  73. ncbi request reprint A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome)
    Joseph Muenzer
    University of North Carolina, Department of Pediatrics, Chapel Hill, NC 27599, USA
    Genet Med 8:465-73. 2006
    ..To evaluate the safety and efficacy of recombinant human iduronate-2-sulfatase (idursulfase) in the treatment of mucopolysaccharidosis II...
  74. doi request reprint Enzyme replacement therapy in Fabry disease: comparison of agalsidase alfa and agalsidase beta
    Atul Mehta
    Mol Genet Metab 95:114-5. 2008
  75. pmc Ocular manifestations of Fabry's disease: data from the Fabry Outcome Survey
    Andrea Sodi
    Department of Ophthalmology, University of Florence, Clinica Oculistica, Policlinico di Careggi, Viale Morgagni 85, 50134 Firenze, Italy
    Br J Ophthalmol 91:210-4. 2007
    ..Fabry's disease is an X-linked lysosomal storage disorder characterised by deficient activity of the enzyme alpha-galactosidase A...
  76. doi request reprint Recognition and diagnosis of mucopolysaccharidosis II (Hunter syndrome)
    Rick Martin
    Department of Pediatrics, St Louis University, 1465 S Grand Blvd, St Louis, MO 63104, USA
    Pediatrics 121:e377-86. 2008
    ..The purpose of this report is to provide a concise review of mucopolysaccharidosis II for practitioners with the hope that such information will help identify affected boys earlier in the course of their disease...
  77. ncbi request reprint Damage at the cellular and organ levels in LSDs: possibility for prevention/reversibility with ERT
    Timothy M Cox
    Department of Medicine, University of Cambridge, Addenbrooke s Hospital, Cambridge, UK
    Acta Paediatr Suppl 95:75-6. 2006
  78. ncbi request reprint Attractiveness of variations in the smile arc and buccal corridor space as judged by orthodontists and laymen
    Sanjay Manhar Parekh
    Angle Orthod 76:557-63. 2006
    ..To evaluate changes in attractiveness on the basis of computerized variations of smile arcs and buccal corridors for male and female smiles judged by orthodontists and laypersons...
  79. ncbi request reprint Recurrent brief depression in a female patient with Fabry disease
    Matthias J Muller
    Bipolar Disord 8:418-9. 2006
  80. ncbi request reprint Prevalence of uncontrolled hypertension in patients with Fabry disease
    Julia Kleinert
    Division of Nephrology and Dialysis, Department of Medicine III, Medical University Vienna, Vienna, Austria
    Am J Hypertens 19:782-7. 2006
    ..The prevalence of uncontrolled hypertension, as well as the effect of enzyme replacement therapy on BP, in patients with Fabry disease is unknown...
  81. ncbi request reprint Mutational analysis of 105 mucopolysaccharidosis type VI patients
    Litsa Karageorgos
    Lysosomal Diseases Research Unit, Department of Genetic Medicine, Children, Youth and Women s Health Service, North Adelaide, South Australia, Australia
    Hum Mutat 28:897-903. 2007
    ..This mutation analysis has identified a clear correlation between genotype and urinary GAG that can be used to predict clinical outcome...
  82. doi request reprint Seventh International Symposium on Lysosomal Storage Diseases
    Johannes Aerts
    Department of Medical Biochemistry, Academic Medical Center, Amsterdam, The Netherlands
    Acta Paediatr Suppl 97:1-2. 2008
  83. doi request reprint 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
    Paul Harmatz
    Children s Hospital and Research Center Oakland, 747 52nd Street, Oakland, CA 94609, USA
    Mol Genet Metab 94:469-75. 2008
    ..Safety was evaluated by compliance, adverse event (AE) reporting and adherence to treatment...
  84. doi request reprint Initial report from the Hunter Outcome Survey
    J Edmond Wraith
    From the 1Willink Biochemical Genetics Unit, Royal Manchester Children s Hospital, Manchester, United Kingdom
    Genet Med 10:508-16. 2008
    ..The Hunter Outcome Survey (HOS) was established to better describe the natural history of this disorder and to evaluate the long-term effect of enzyme replacement therapy...
  85. pmc Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy
    J Edmond Wraith
    Willink Biochemical Genetics Unit, Royal Manchester Children s Hospital, Hospital Road, Manchester M27 4HA, UK
    Eur J Pediatr 167:267-77. 2008
    ..The issue of treating very young patients and those with CNS involvement is also discussed. ERT with idursulfase has the potential to benefit many patients with MPS II, especially if started early in the course of the disease...
  86. ncbi request reprint Social representations of major depression in West and East Germany--do differences still persist 11 years after reunification?
    Michael Beck
    Dept of Psychiatry, University of Leipzig, Johannisallee 20, 04317 Leipzig, Germany
    Soc Psychiatry Psychiatr Epidemiol 38:520-5. 2003
    ..Back then, we predicted that in a few years these differences would have reduced. To test this hypothesis, a second survey was conducted in 2001...
  87. ncbi request reprint Thirty-four novel mutations of the GLA gene in 121 patients with Fabry disease
    Ellen Schäfer
    Institute of Human Genetics, University Hospital Eppendorf, Hamburg, Germany
    Hum Mutat 25:412. 2005
    ..6%), deletions (17.8%) or insertions/duplications (5.6%) of a few nucleotides, and complex rearrangements including larger deletions (2.2%). GLA mutations were identified in 82 (97.6%) of the 84 unrelated male patients...
  88. ncbi request reprint Development and testing of new screening method for keratan sulfate in mucopolysaccharidosis IVA
    Shunji Tomatsu
    Edward A Doisy Department of Biochemistry and Molecular Biology, St Louis University School of Medicine, 1402 S Grand Blvd, St Louis, MO 63104, USA
    Pediatr Res 55:592-7. 2004
    ..7 times greater urine KS excretion than the milder one. These findings indicate that the new assay for blood or urine KS may be suitable for early diagnosis and longitudinal assessment of disease severity in MPS IVA...
  89. ncbi request reprint The MPS I registry: design, methodology, and early findings of a global disease registry for monitoring patients with Mucopolysaccharidosis Type I
    Gregory M Pastores
    NYU School of Medicine, New York, NY 10016, USA
    Mol Genet Metab 91:37-47. 2007
    ....
  90. doi request reprint Genetic polymorphisms of vitamin D receptor (VDR) in Fabry disease
    Michael Teitcher
    Gaucher Clinic, Shaare Zedek Medical Center, Jerusalem, Israel
    Genetica 134:377-83. 2008
    ..Despite the limitations of using the MSSI score as a clinical correlate, these results are provocative and further studies in larger cohorts with more males are recommended...