... RightsLink service via the Permissions link on the article page on our site—for further information please contact [email protected]. Abstract Krabbe disease (KD) is an autosomal recessive sphingolipidosis due to mutations of the GALC gene encoding for the lysosomal β...

... with NPHS14 should be unique, possibly targeting the sphingolipid metabolism. adrenal insufficiency glomerular disease nephrotic syndrome sphingolipidosis sphingolipids Congenital nephrotic syndrome (CNS) is a chronic kidney disease whose symptoms appear before and immediately after birth: massive...

... for evaluation of the pathogenesis and of treatment approaches of these genetic disorders. Key words: brain development and function, gene targeting, mouse model, sphingolipid, sphingolipidosis. Sphingolipids comprise a group of complex lipids that are intracellular...

... sphingolipidosis results for tissue compared normal values CIJN. CHEM.21/6, 725-729(1975) Above-Normal Urinary Excretion of Urinary Cerarnides in Farber s Disease, and Characterization of Their Components by High-Performance Liquid Chromatography Masao Iwamori and Hugo W. Moser We compared the sphingolipid...

... marrow. MRI can also be used to detect treatment response. Enzyme replacement therapy (ERT) is the primary treatment for GD. sphingolipidosis mucolipidosis Gaucher disease Fabry disease Niemann-Pick disease Erlenmeyer flask deformity crumpled silk appearance of cytoplasm cytoplasm Erlenmeyer flask...