Research Topics
Genomes and GenesSpecies | M RiesSummaryAffiliation: National Institutes of Health Country: USA Publications
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Detail Information
Publications
Parapelvic kidney cysts: a distinguishing feature with high prevalence in Fabry diseaseMarkus 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...- Pediatric Fabry diseaseMarkus 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... - Use of gabapentin to reduce chronic neuropathic pain in Fabry diseaseM 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... - The early clinical phenotype of Fabry disease: a study on 35 European children and adolescentsMarkus 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... - The Mainz Severity Score Index: a new instrument for quantifying the Anderson-Fabry disease phenotype, and the response of patients to enzyme replacement therapyC 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... - Neuropathic and cerebrovascular correlates of hearing loss in Fabry diseaseM 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... - Enzyme replacement in Fabry disease: pharmacokinetics and pharmacodynamics of agalsidase alpha in children and adolescentsMarkus 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... - Enzyme replacement therapy and intraepidermal innervation density in Fabry diseaseRaphael 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... - Fabry's disease--an important risk factor for strokeRaphael 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 - Long-term therapy with agalsidase alfa for Fabry disease: safety and effects on renal function in a home infusion settingRaphael 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... - The relationship of vascular glycolipid storage to clinical manifestations of Fabry disease: a cross-sectional study of a large cohort of clinically affected heterozygous womenSurya 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... - Weekly enzyme replacement therapy may slow decline of renal function in patients with Fabry disease who are on long-term biweekly dosingRaphael 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... - Pathological findings in a patient with Fabry disease who died after 2.5 years of enzyme replacementRaphael 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... - Myeloperoxidase predicts risk of vasculopathic events in hemizgygous males with Fabry diseaseC 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... - Cardiac manifestations of Anderson-Fabry disease in heterozygous femalesChristoph 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)... - Enzyme-replacement therapy with agalsidase alfa in children with Fabry diseaseMarkus 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..Prospective long-term studies are needed to assess whether enzyme replacement initiated early in patients with Fabry disease is able to prevent major organ failure in adulthood... - Quantitative dysmorphology assessment in Fabry diseaseMarkus 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..Some of these features are subtle as documented by the inter-rater variability. Awareness of these features may facilitate the diagnosis of patients with Fabry disease, and identification of affected family members... - Enzyme replacement therapy in orphan and ultra-orphan diseases: the limitations of standard economic metrics as exemplified by Fabry-Anderson diseaseDavid 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... - Apoptotic abnormalities in differential gene expression in peripheral blood mononuclear cells from children with Fabry diseaseDavid 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... - Fabry disease: angiokeratoma, biomarker, and the effect of enzyme replacement therapy on kidney functionMarkus Ries
Arch Dermatol 141:904-5; author reply 905-6. 2005 - Thirty-four novel mutations of the GLA gene in 121 patients with Fabry diseaseEllen 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... - Disease manifestations and X inactivation in heterozygous females with Fabry diseaseEsther 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..Our data do not support the hypothesis that the occurrence and severity of disease manifestations in the majority of Fabry heterozygotes are related to skewed X inactivation... - Proteomics of specific treatment-related alterations in Fabry disease: a strategy to identify biological abnormalitiesDavid 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... - Cardiac involvement in Anderson-Fabry diseaseChristoph Kampmann
Division of Cardiology, University Children's Hospital, , Langenbeckstrasse 1, D-55131 Mainz, Germany
J Am Soc Nephrol 13:S147-9. 2002