Fabry disease: Detection of undiagnosed hemodialysis patients and identification of a “renal variant” phenotype1
Top Cited Papers
- 1 September 2003
- journal article
- Published by Elsevier in Kidney International
- Vol. 64 (3), 801-807
- https://doi.org/10.1046/j.1523-1755.2003.00160.x
Abstract
No abstract availableKeywords
This publication has 29 references indexed in Scilit:
- Enzyme replacement and enhancement therapies: lessons from lysosomal disordersNature Reviews Genetics, 2002
- Patients with Fabry disease on dialysis in the United StatesKidney International, 2002
- Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier femalesJournal of Medical Genetics, 2001
- A Phase 1/2 Clinical Trial of Enzyme Replacement in Fabry Disease: Pharmacokinetic, Substrate Clearance, and Safety StudiesAmerican Journal of Human Genetics, 2001
- Blood group B glycosphingolipids in α-galactosidase deficiency (Fabry disease): influence of secretor statusBiochimica et Biophysica Acta (BBA) - Lipids and Lipid Metabolism, 1997
- Painful Fingers, Heat Intolerance, and Telangiectases of the Ear: Easily Ignored Childhood Signs of Fabry DiseasePediatric Dermatology, 1995
- Fabry disease: twenty-three mutations including sense and antisense CpG alterations and identification of a deletional hot-spot in the α-galactosidase A geneHuman Molecular Genetics, 1994
- Hypertrophic cardiomyopathy in late‐onset variant of Fabry disease with high residual activity of α‐galactosidase AClinical Genetics, 1991
- Differential assay for lysosomal alpha-galactosidases in human tissues and its application to Fabry's diseaseClinica Chimica Acta; International Journal of Clinical Chemistry, 1981
- Cardiac valvular anomalies in Fabry disease. Clinical, morphologic, and biochemical studies.Circulation, 1976