Raphael Schiffmann
- Enzyme Replacement Therapy in Fabry Disease
2001/06/06 by Raphael Schiffmann, Jeffrey B. Kopp, Howard A. Austin +5 · 5 citations
Biochemistry, Genetics and Molecular Biology · Medicine · #Anesthesia #Disease #Enzyme replacement therapy #Fabry disease #Gastroenterology #Glycogen Storage Diseases and Myoclonus #Internal medicine #Kidney disease #Lysosomal Storage Disorders Research #Medicine #Neuropathic pain #Pathology #Placebo #Protease and Inhibitor Mechanisms #Renal replacement therapy
- Novel (ovario) leukodystrophy related to AARS2 mutations
2014/05/08 by Cristina Dallabona, Daria Diodato, Sietske H. Kevelam +27 · 28 citations
Biochemistry, Genetics and Molecular Biology · Medicine · #Ataxia #Atrophy #Biology #Cerebellar ataxia #Compound heterozygosity #Exome sequencing #Genetic heterogeneity #Genetics #Hereditary spastic paraplegia #Leukoencephalopathy #Medicine #Mitochondrial Function and Pathology #Pathology #Phenotype #RNA and protein synthesis mechanisms #RNA regulation and disease
- Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy
2009/02/13 by Raphael Schiffmann, David G. Warnock, Maryam Banikazemi +6 · 6 citations
Medicine · #Lysosomal Storage Disorders Research #Trypanosoma species research and implications #Glycogen Storage Diseases and Myoclonus
- Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study
2016/11/10 by Derralynn Hughes, Kathy Nicholls, Suma P. Shankar +35 · 3 citations
Medicine · #Lysosomal Storage Disorders Research #Biomedical Research and Pathophysiology #Glycogen Storage Diseases and Myoclonus #Fabry disease #Enzyme replacement therapy #Medicine #Internal medicine #Bioinformatics #Pharmacology #Disease #Biology
- Fabry disease
2015/01/01 by Raphael Schiffmann · 1 citation
Chemistry · Medicine · #Bioinformatics #Biology #Carbohydrate Chemistry and Synthesis #Context (archaeology) #Disease #Etiology #Fabry disease #Gastroenterology #Glycogen Storage Diseases and Myoclonus #Internal medicine #Kidney disease #Lysosomal Storage Disorders Research #Medicine #Metabolic disorder #Organ dysfunction #Pathology #Population #Stroke (engine)