Sphingolipid metabolism diseases

This publication has 279 references indexed in Scilit:

• The ratio of α‐galactosidase to β‐glucuronidase activities in dried blood for the identification of female Fabry disease patients
  Journal of Inherited Metabolic Disease, 2005
• A mutation within the saposin D domain in a Gaucher disease patient with normal glucocerebrosidase activity
  Human Genetics, 2005
• Exocytosis of storage material in a lysosomal disorder
  Biochemical and Biophysical Research Communications, 2005
• Lipid Rafts
  Cell, 2003
• The X-ray Crystal Structure of Human β-Hexosaminidase B Provides New Insights into Sandhoff Disease
  Journal of Molecular Biology, 2003
• Plasma Membrane Repair Is Mediated by Ca2+-Regulated Exocytosis of Lysosomes
  Cell, 2001
• Correction of the Galactocerebrosidase Deficiency in Globoid Cell Leukodystrophy-Cultured Cells by SL3-3 Retroviral-Mediated Gene Transfer
  Biochemical and Biophysical Research Communications, 1996
• Mutational analysis in a patient with a variant form of Gaucher disease caused by SAP-2 deficiency
  Somatic Cell and Molecular Genetics, 1993
• Activator proteins and topology of lysosomal sphingolipid catabolism
  Biochimica et Biophysica Acta (BBA) - Lipids and Lipid Metabolism, 1992
• Globoid cell leukodystrophy: Additional deficiency of psychosine galactosidase
  Biochemical and Biophysical Research Communications, 1972