M Ries

Summary

Affiliation: National Institutes of Health
Country: USA

Publications

  1. ncbi request reprint Parapelvic kidney cysts: a distinguishing feature with high prevalence in 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
    Kidney Int 66:978-82. 2004
  2. ncbi request reprint Pediatric Fabry disease
    Markus Ries
    Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Building 10, Room 3D03, Bethesda, MD 20892 1260, USA
    Pediatrics 115:e344-55. 2005
  3. 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
  4. 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
  5. 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
  6. pmc Neuropathic and cerebrovascular correlates of hearing loss in Fabry disease
    M Ries
    Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892 1260, USA
    Brain 130:143-50. 2007
  7. 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
  8. ncbi request reprint Enzyme replacement therapy and intraepidermal innervation density in Fabry disease
    Raphael Schiffmann
    Developmental and Metabolic Neurology Branch, NINDS, National Institutes of Health, Bldg 10, Room 3D03, 9000 Rockville Pike, Bethesda, Maryland 20892, USA
    Muscle Nerve 34:53-6. 2006
  9. ncbi request reprint Fabry's disease--an important risk factor for stroke
    Raphael Schiffmann
    Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA
    Lancet 366:1754-6. 2005
  10. ncbi request reprint Long-term therapy with agalsidase alfa for Fabry disease: safety and effects on renal function in a home infusion setting
    Raphael Schiffmann
    Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke National Institutes of Health, Bethesda, MD 20892 1260, USA
    Nephrol Dial Transplant 21:345-54. 2006

Collaborators

Detail Information

Publications24

  1. ncbi request reprint Parapelvic kidney cysts: a distinguishing feature with high prevalence in 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
    Kidney Int 66:978-82. 2004
    ..In order to identify key novel renal diagnostic imaging features of Fabry disease, we conducted a cross sectional case-control study of kidney involvement in patients with Fabry disease...
  2. ncbi request reprint Pediatric Fabry disease
    Markus Ries
    Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Building 10, Room 3D03, Bethesda, MD 20892 1260, USA
    Pediatrics 115:e344-55. 2005
    ..Fabry disease is an underdiagnosed, treatable, X-linked, multisystem disorder...
  3. 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...
  4. 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
    ..Considering its widespread therapeutic and potential preventive benefits, enzyme replacement therapy should be initiated at an early stage, prior to the onset of irreversible complications...
  5. 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...
  6. pmc Neuropathic and cerebrovascular correlates of hearing loss in Fabry disease
    M Ries
    Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892 1260, USA
    Brain 130:143-50. 2007
    ..Our quantitative analysis suggests a correlation of neuropathic and vascular damage with hearing loss in the males. Residual GALA activity appears to have a protective effect against hearing loss...
  7. 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...
  8. ncbi request reprint Enzyme replacement therapy and intraepidermal innervation density in Fabry disease
    Raphael Schiffmann
    Developmental and Metabolic Neurology Branch, NINDS, National Institutes of Health, Bldg 10, Room 3D03, 9000 Rockville Pike, Bethesda, Maryland 20892, USA
    Muscle Nerve 34:53-6. 2006
    ..Thermal thresholds remained unchanged. We conclude that epidermal nerve fiber regeneration, as measured in the distal thigh, does not occur in this patient population after 12-18 months of ERT...
  9. ncbi request reprint Fabry's disease--an important risk factor for stroke
    Raphael Schiffmann
    Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA
    Lancet 366:1754-6. 2005
  10. ncbi request reprint Long-term therapy with agalsidase alfa for Fabry disease: safety and effects on renal function in a home infusion setting
    Raphael Schiffmann
    Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke National Institutes of Health, Bethesda, MD 20892 1260, USA
    Nephrol Dial Transplant 21:345-54. 2006
    ..Our objective is to describe the safety and renal effects of long-term enzyme replacement therapy...
  11. ncbi request reprint The relationship of vascular glycolipid storage to clinical manifestations of Fabry disease: a cross-sectional study of a large cohort of clinically affected heterozygous women
    Surya Gupta
    Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland 20892 1260, USA
    Medicine (Baltimore) 84:261-8. 2005
    ..Useful outcome measures for assessment of specific therapies need to be developed. Studies limited to homogeneously affected subjects may be possible...
  12. pmc Weekly enzyme replacement therapy may slow decline of renal function in patients with Fabry disease who are on long-term biweekly dosing
    Raphael Schiffmann
    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 Am Soc Nephrol 18:1576-83. 2007
    ..2 mg/kg may be beneficial in the subgroup of patients who have Fabry disease and whose kidney function continues to decline after 2 to 4 yr or more of standard EOW dosing...
  13. pmc Pathological findings in a patient with Fabry disease who died after 2.5 years of enzyme replacement
    Raphael Schiffmann
    Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA
    Virchows Arch 448:337-43. 2006
    ..These findings also illustrate accelerated atherosclerosis in susceptible patients with Fabry disease...
  14. pmc Myeloperoxidase predicts risk of vasculopathic events in hemizgygous males with Fabry disease
    C R Kaneski
    Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke National Institutes of Health, Bethesda, MD 20892 1260, USA
    Neurology 67:2045-7. 2006
    ..Long-term enzyme replacement therapy did not reduce myeloperoxidase level or eliminate the risk of vasculopathic events...
  15. 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)...
  16. 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...
  17. ncbi request reprint Quantitative dysmorphology assessment in Fabry disease
    Markus Ries
    Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892 1260, USA
    Genet Med 8:96-101. 2006
    ..2) To devise a quantitative method to evaluate dysmorphic abnormalities in Fabry disease...
  18. ncbi request reprint Enzyme replacement therapy in orphan and ultra-orphan diseases: the limitations of standard economic metrics as exemplified by Fabry-Anderson disease
    David F Moore
    Section of Neurology and Section of Proteomics and System Biology, University of Manitoba, Winnipeg, Manitoba, Canada
    Pharmacoeconomics 25:201-8. 2007
    ..The variable clinical efficacy and cost of ERT has resulted in reluctance by some health providers to approve it...
  19. doi request reprint Apoptotic abnormalities in differential gene expression in peripheral blood mononuclear cells from children with Fabry disease
    David F Moore
    Section of Neurology, University of Manitoba, Winnipeg, Canada
    Acta Paediatr Suppl 97:48-52. 2008
    ..This study was designed to examine the effect of enzyme replacement therapy (ERT) on differential gene expression in peripheral blood mononuclear cells (PBMCs) of children with Fabry disease who had not previously been exposed to ERT...
  20. ncbi request reprint Fabry disease: angiokeratoma, biomarker, and the effect of enzyme replacement therapy on kidney function
    Markus Ries
    Arch Dermatol 141:904-5; author reply 905-6. 2005
  21. 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...
  22. 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...
  23. pmc Proteomics of specific treatment-related alterations in Fabry disease: a strategy to identify biological abnormalities
    David F Moore
    Section of Neurology, Manitoba Center for Proteomics and System Biology, University of Manitoba, Winnipeg, Ontario, Canada R3C 4J5
    Proc Natl Acad Sci U S A 104:2873-8. 2007
    ..We demonstrated the feasibility of identifying treatment-specific alterations in a small number of subjects that point to previously unsuspected disease-related biological abnormalities...
  24. 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