Raphael Schiffmann
Texas Christian University(US)
Publications by Year
Research Areas
Lysosomal Storage Disorders Research, RNA regulation and disease, Carbohydrate Chemistry and Synthesis, Glycogen Storage Diseases and Myoclonus, Cellular transport and secretion
Most-Cited Works
- → Enzyme Replacement Therapy in Fabry Disease(2001)1,301 cited
- → Invited Article: An MRI-based approach to the diagnosis of white matter disorders(2009)545 cited
- → Treatment of Fabry’s Disease with the Pharmacologic Chaperone Migalastat(2016)544 cited
- → Natural History of Fabry Renal Disease(2002)459 cited
- → Neuropathology provides clues to the pathophysiology of Gaucher disease(2004)456 cited
- → Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation(2007)450 cited
- → Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome(2007)