Niemann-Pick C disease: History, current research topics, biological and molecular diagnosis;Maladie de Niemann-Pick type C: Aspects historiques et actuels, diagnostic biochimique et génétique

Archives de Pediatrie

Volumn 17, Issue SUPPL. 2, 2010, Pages

  Vanier, Marie T ^a,b  

^a INSERM   (France)

^b HOSPICES CIVILS DE LYON   (France)

Author keywords

Cholest rol; Niemann Pick type C; Sphingolipides

Indexed keywords

CHOLESTEROL; GENE PRODUCT; LIPID; NPC1 PROTEIN; NPC2 PROTEIN; UNCLASSIFIED DRUG; CARRIER PROTEIN; GLYCOPROTEIN; MEMBRANE PROTEIN; NPC1 PROTEIN, HUMAN; NPC2 PROTEIN, HUMAN;

ARTICLE; BIOCHEMISTRY; BRAIN DYSFUNCTION; CHOLESTEROL TRANSPORT; CLINICAL RESEARCH; HISTORY OF MEDICINE; HUMAN; LABORATORY DIAGNOSIS; LIPID TRANSPORT; MOLECULAR BIOLOGY; NIEMANN PICK DISEASE; BRAIN; GENETICS; LIPID METABOLISM; METABOLISM; MUTATION; NIEMANN-PICK DISEASE, TYPE C;

BRAIN; CARRIER PROTEINS; GLYCOPROTEINS; HUMANS; LIPID METABOLISM; MEMBRANE GLYCOPROTEINS; MUTATION; NIEMANN-PICK DISEASE, TYPE C;

EID: 77954170148     PISSN: 0929693X     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0929-693X(10)70010-5     Document Type: Article

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