Biochimica et Biophysica Acta (BBA) - Lipids and Lipid Metabolism
Volume 1043, Issue 2, 2 April 1990, Pages 157-160
Urinary neutral glycosphingolipid analysis of patients with Fabry's disease; rapid isocratic elution from high-performance liquid chromatography as per-o-benzoyl derivatives
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Autophagy, lipophagy and lysosomal lipid storage disorders
2016, Biochimica et Biophysica Acta - Molecular and Cell Biology of LipidsCitation Excerpt :Fabry disease (FD) is a rare, inherited, metabolic disorder with clinical manifestations including lipid accumulation in the cornea [137], heart defects, angina and exercise intolerance [138–141]. It is more common in males than females, and is caused by mutations in the gene encoding ɑ-galactosidase A located on the X-chromosome [142–145]. Without functional ɑ-galactosidase A, cells accumulate globotriaosylceramide and other glycosphingolipids in various tissues including the kidney [123,124].
Metabolomic discovery of novel urinary galabiosylceramide∈analogs as Fabry disease biomarkers
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2010, Current Chemical Genomics
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Deceased.
Copyright © 1990 Published by Elsevier B.V.