Diagnostic tests for Niemann-Pick disease type C (NP-C): A critical review

Molecular Genetics and Metabolism

Volumn 118, Issue 4, 2016, Pages 244-254

  Vanier, Marie T ^a,b   Gissen, Paul ^c,d   Bauer, Peter ^e   Coll, Maria J ^f,g   Burlina, Alberto ^h   Hendriksz, Christian J ^i,j   Latour, Philippe ^b   Goizet, Cyril ^k,l   Welford, Richard W D ^m   Marquardt, Thorsten ⁿ   Kolb, Stefan A ^m  

^a INSERM   (France)

^b HOSPICES CIVILS DE LYON   (France)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

^d GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^e UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

^f HOSPITAL CLÍNIC   (Spain)

^g CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^h UNIVERSITY HOSPITAL OF PADOVA   (Italy)

ⁱ SALFORD ROYAL NHS FOUNDATION TRUST   (United Kingdom)

^j UNIVERSITY OF PRETORIA   (South Africa)

^k BORDEAUX UNIVERSITY HOSPITAL   (France)

^l UNIVERSITÉ DE BORDEAUX   (France)

^m ACTELION PHARMACEUTICALS LTD   (Switzerland)

ⁿ UNIVERSITY HOSPITAL MÜNSTER   (Germany)

more..

Author keywords

Filipin; Lysosphingomyelin; Niemann Pick disease type C; NPC1 gene; NPC2 gene; Oxysterol

Indexed keywords

BILE ACID; CHITOTRIOSIDASE; FILIPIN; LOW DENSITY LIPOPROTEIN CHOLESTEROL; OXYSTEROL; REACTIVE OXYGEN METABOLITE; SPHINGOLIPID; BIOLOGICAL MARKER; CARRIER PROTEIN; CHOLESTANE DERIVATIVE; GLYCOPROTEIN; MEMBRANE PROTEIN; NPC1 PROTEIN, HUMAN; NPC2 PROTEIN, HUMAN; PHOSPHORYLCHOLINE; SPHINGOSINE; SPHINGOSINE PHOSPHORYLCHOLINE;

CELL MIGRATION; CHOLESTEROL ESTERIFICATION; CYTOLOGY; DIAGNOSTIC PROCEDURE; DIAGNOSTIC TEST; ENZYME ACTIVITY; GENE; GENE MUTATION; GENETIC SCREENING; GENETIC VARIATION; GENOTYPE; HUMAN; INTRACELLULAR TRANSPORT; LABORATORY DIAGNOSIS; NIEMANN PICK DISEASE; NONHUMAN; NPC1 GENE; NPC2 GENE; OXIDATIVE STRESS; PRIORITY JOURNAL; REVIEW; ANALOGS AND DERIVATIVES; BLOOD; GENETICS; ONSET AGE; PATHOPHYSIOLOGY;

AGE OF ONSET; BILE ACIDS AND SALTS; BIOMARKERS; CARRIER PROTEINS; CHOLESTANES; GENETIC TESTING; GLYCOPROTEINS; HUMANS; MEMBRANE GLYCOPROTEINS; NIEMANN-PICK DISEASE, TYPE C; PHOSPHORYLCHOLINE; SPHINGOSINE;

EID: 84991201424     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2016.06.004     Document Type: Review

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