Gaucher disease and Fabry disease: New markers and insights in pathophysiology for two distinct glycosphingolipidoses

Biochimica et Biophysica Acta - Molecular and Cell Biology of Lipids

Volumn 1841, Issue 5, 2014, Pages 811-825

  Ferraz, Maria J ^a   Kallemeijn, Wouter W ^a   Mirzaian, Mina ^a   Herrera Moro, Daniela ^a   Marques, Andre ^a   Wisse, Patrick ^b   Boot, Rolf G ^a   Willems, Lianne I ^b   Overkleeft, H S ^b   Aerts, J M ^a,b  

^a ACADEMIC MEDICAL CENTER   (Netherlands)

^b LEIDEN UNIVERSITY   (Netherlands)

Author keywords

Activity based probe; Fabry disease; Galactotriaosylsphingosine; Gaucher disease; Glycosphingolipid; Lysosome

Indexed keywords

BIOCHEMICAL MARKER; CHITOTRIOSIDASE; ENZYME; GANGLIOSIDE; GLOBOTRIAOSYLCERAMIDE; GLOBOTRIAOSYLSPHINGOSINE; GLUCOSYLCERAMIDE; GLYCOSPHINGOLIPID; SPHINGOSINE DERIVATIVE; UNCLASSIFIED DRUG;

ADAPTATION; ARTICLE; DIAGNOSTIC TEST; ENZYME REPLACEMENT; FABRY DISEASE; GAUCHER DISEASE; GENE MUTATION; GENOTYPE; HUMAN; LIPID METABOLISM; LIPID STORAGE; PATHOPHYSIOLOGY; PRIORITY JOURNAL;

ACTIVITY-BASED PROBE; FABRY DISEASE; GALACTOTRIAOSYLSPHINGOSINE; GAUCHER DISEASE; GLYCOSPHINGOLIPID; LYSOSOME;

BIOLOGICAL MARKERS; FABRY DISEASE; GAUCHER DISEASE; GLYCOSPHINGOLIPIDS; HUMANS;

EID: 84897374794     PISSN: 13881981     EISSN: 18792618     Source Type: Journal    
DOI: 10.1016/j.bbalip.2013.11.004     Document Type: Review

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