Sodium taurocholate cotransporting polypeptide (SLC10A1) deficiency: Conjugated hypercholanemia without a clear clinical phenotype

Hepatology

Volumn 61, Issue 1, 2015, Pages 260-267

  Vaz, Frédéric M ^a   Paulusma, Coen C ^a   Huidekoper, Hidde ^a   de Ru, Minke ^a   Lim, Cynthia ^b   Koster, Janet ^a   Ho Mok, Kam ^a   Bootsma, Albert H ^a   Groen, Albert K ^c   Schaap, Frank G ^a,d   Oude Elferink, Ronald P J ^a   Waterham, Hans R ^a   Wanders, Ronald J A ^a  

^a ACADEMIC MEDICAL CENTER   (Netherlands)

^b Waterlandziekenhuis ^*  (Netherlands)

^c UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^d MAASTRICHT UNIVERSITY   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ALKALINE PHOSPHATASE; BILE SALT; BILIRUBIN; FIBROBLAST GROWTH FACTOR 19; SODIUM BILE ACID COTRANSPORTER; TAUROCHOLIC ACID; CHOLIC ACID DERIVATIVE; COTRANSPORTER; ORGANIC ANION TRANSPORTER; SODIUM-BILE ACID COTRANSPORTER;

ALKALINE PHOSPHATASE BLOOD LEVEL; ALKAPTONURIA; ARTICLE; BILE ACID METABOLISM; BILE ACID SYNTHESIS; BILIRUBIN BLOOD LEVEL; BIOTINYLATION; CASE REPORT; CELL MEMBRANE; CHILD; ENDOPLASMIC RETICULUM; ENTEROHEPATIC CIRCULATION; EXCRETION; FEMALE; GENE SEQUENCE; GROWTH RETARDATION; HUMAN; IMMUNOFLUORESCENCE; LIVER DYSFUNCTION; MICHAELIS MENTEN KINETICS; MUSCLE HYPOTONIA; OBSTRUCTIVE JAUNDICE; PHENOTYPE; POINT MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN DEFICIENCY; PRURITUS; SODIUM BILE ACID COTRANSPORTER DEFICIENCY; WESTERN BLOTTING; AMINO ACID SEQUENCE; BLOOD; DEFICIENCY; GENETICS; INBORN ERROR OF STEROID METABOLISM; INFANT; MOLECULAR GENETICS; PROTEIN TRANSPORT;

AMINO ACID SEQUENCE; CHOLIC ACIDS; FEMALE; HUMANS; INFANT; MOLECULAR SEQUENCE DATA; ORGANIC ANION TRANSPORTERS, SODIUM-DEPENDENT; PHENOTYPE; POINT MUTATION; PROTEIN TRANSPORT; STEROID METABOLISM, INBORN ERRORS; SYMPORTERS;

EID: 84920954598     PISSN: 02709139     EISSN: 15273350     Source Type: Journal    
DOI: 10.1002/hep.27240     Document Type: Article

References (24)

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