Raphael Schiffmann mainly focuses on Fabry disease, Internal medicine, Enzyme replacement therapy, Endocrinology and Pathology. His Fabry disease study combines topics in areas such as Cerebral blood flow, Vascular disease and Renal function. His studies deal with areas such as Gastroenterology and Neuropathic pain as well as Internal medicine.
His Enzyme replacement therapy research includes themes of Surgery, Kidney disease, Urology, Nephropathy and Fabry's disease. His research investigates the connection with Endocrinology and areas like Pathogenesis which intersect with concerns in Bioinformatics, Parkinson's disease and Proband. He has included themes like Magnetic resonance imaging and Encephalopathy in his Pathology study.
Raphael Schiffmann spends much of his time researching Fabry disease, Internal medicine, Pathology, Enzyme replacement therapy and Endocrinology. His Fabry disease research integrates issues from Surgery, Vascular disease and Renal function. His biological study spans a wide range of topics, including Gastroenterology, Oncology and Cardiology.
His work focuses on many connections between Pathology and other disciplines, such as White matter, that overlap with his field of interest in Leukoencephalopathy. His Enzyme replacement therapy research is multidisciplinary, relying on both Nephropathy, Alpha-galactosidase, Kidney and Urology. His research investigates the link between Leukodystrophy and topics such as Genetics that cross with problems in Molecular biology.
Fabry disease, Internal medicine, Migalastat, Enzyme replacement therapy and Pharmacology are his primary areas of study. His study on Globotriaosylceramide is often connected to In patient as part of broader study in Fabry disease. His Internal medicine research is multidisciplinary, incorporating elements of Gastroenterology, Endocrinology and Cardiology.
The concepts of his Endocrinology study are interwoven with issues in Priapism and Pathogenesis. Pathology covers he research in Migalastat. As part of one scientific family, Raphael Schiffmann deals mainly with the area of Enzyme replacement therapy, narrowing it down to issues related to the Alpha-galactosidase, and often Fabry's disease and Nephropathy.
Raphael Schiffmann mostly deals with Fabry disease, Enzyme replacement therapy, Internal medicine, Pharmacology and Alpha-galactosidase. His research in Fabry disease is mostly concerned with Globotriaosylceramide. His work deals with themes such as Adverse effect, Kidney, Renal function and Urology, which intersect with Enzyme replacement therapy.
His Internal medicine research incorporates themes from Endocrinology and Cardiology. In Pharmacology, Raphael Schiffmann works on issues like Migalastat, which are connected to Nephropathy, Fabry's disease, Pharmacological chaperone, Migalastat Hydrochloride and Oncology. His research in Alpha-galactosidase intersects with topics in Receptor, Biochemistry and Mannose.
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Enzyme replacement therapy in Fabry disease: a randomized controlled trial.
Raphael Schiffmann;Jeffrey B. Kopp;Howard A. Austin;Sharda Sabnis.
Enzyme Therapy in Type 1 Gaucher Disease: Comparative Efficacy of Mannose-Terminated Glucocerebrosidase from Natural and Recombinant Sources
Gregory A. Grabowski;Norman W. Barton;Gregory Pastores;James M. Dambrosia.
Annals of Internal Medicine (1995)
Invited Article: An MRI-based approach to the diagnosis of white matter disorders
Raphael Schiffmann;Marjo S. van der Knaap.
Natural history of Fabry renal disease: influence of alpha-galactosidase A activity and genetic mutations on clinical course.
Mary H Branton;Raphael Schiffmann;Sharda G Sabnis;Gary J Murray.
Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation
Gert C Scheper;Thom van der Klok;Rob J van Andel;Carola G M van Berkel.
Nature Genetics (2007)
Xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome: a complex genotype-phenotype relationship.
Kenneth H. Kraemer;Nicholas J. Patronas;Raphael Schiffmann;Brian P. Brooks.
Neuropathology provides clues to the pathophysiology of Gaucher disease
Kondi Wong;Ellen Sidransky;Ajay Verma;Tonghui Mixon.
Molecular Genetics and Metabolism (2004)
Infusion of α-galactosidase A reduces tissue globotriaosylceramide storage in patients with Fabry disease
R. Schiffmann;G. J. Murray;D. Treco;P. Daniel.
Proceedings of the National Academy of Sciences of the United States of America (2000)
Lamin B1 duplications cause autosomal dominant leukodystrophy
Quasar S Padiath;Kazumasa Saigoh;Kazumasa Saigoh;Raphael Schiffmann;Hideaki Asahara.
Nature Genetics (2006)
Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channel
Mei Sun;Ehud Goldin;Stefanie Stahl;John L. Falardeau.
Human Molecular Genetics (2000)
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