Niemann-Pick disease type C

Clinical Genetics

Volumn 64, Issue 4, 2003, Pages 269-281

  Vanier, Marie T ^a,b   Millat, G ^a  

^a INSERM   (France)

^b CENTRE HOSPITALIER LYON SUD   (France)

Author keywords

Cholesterol; Glycolipids; Inborn errors; Lysosome; Neurodegenerative disorder; Niemann; Pick; Transport

Indexed keywords

3ALPHA HYDROXY 5ALPHA PREGNAN 20 ONE; CELL PROTEIN; CHOLESTEROL; COLESTYRAMINE; GLYCOLIPID; HYPOCHOLESTEROLEMIC AGENT; MEMBRANE PROTEIN; MEVINOLIN; MIGLUSTAT; MUTANT PROTEIN; NEUROSTEROID; NICOTINIC ACID; UNCLASSIFIED DRUG;

AUTOSOMAL RECESSIVE DISORDER; CHOLESTEROL TRANSPORT; CHROMOSOME 14Q; CHROMOSOME 18Q; ENDOSOME; GENE MAPPING; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; INTRACELLULAR TRANSPORT; LIPID TRANSPORT; LIPIDOSIS; LYSOSOME; NIEMANN PICK DISEASE; NONHUMAN; PATHOPHYSIOLOGY; PHENOTYPE; PRIORITY JOURNAL; PROTEIN FUNCTION; SHORT SURVEY; STRUCTURE ACTIVITY RELATION;

CARRIER PROTEINS; CHOLESTEROL; CHROMOSOMES, HUMAN, PAIR 14; CHROMOSOMES, HUMAN, PAIR 18; GENES, RECESSIVE; GLYCOLIPIDS; GLYCOPROTEINS; HUMANS; MEMBRANE GLYCOPROTEINS; MODELS, MOLECULAR; MUTATION; NIEMANN-PICK DISEASES; PHENOTYPE; STRUCTURE-ACTIVITY RELATIONSHIP;

EID: 0141886877     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1399-0004.2003.00147.x     Document Type: Short Survey

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