Organic solute transporter-β (SLC51B) deficiency in two brothers with congenital diarrhea and features of cholestasis

Hepatology

Volumn 68, Issue 2, 2018, Pages 590-598

  Sultan, Mutaz ^a   Rao, Anuradha ^b   Elpeleg, Orly ^c   Vaz, Frédéric M ^d   Abu Libdeh, Bassam ^a   Karpen, Saul J ^b   Dawson, Paul A ^b  

^a AL QUDS UNIVERSITY   (Palestine)

^b EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^d ACADEMIC MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE AMINOTRANSFERASE; ALPHA TOCOPHEROL; ASPARTATE AMINOTRANSFERASE; BILE ACID; BILIRUBIN; COLECALCIFEROL; DNA; PROTEIN; RETINOL; SLC51B PROTEIN; UNCLASSIFIED DRUG; CARRIER PROTEIN; ORGANIC SOLUTE TRANSPORTER BETA, HUMAN;

ALANINE AMINOTRANSFERASE BLOOD LEVEL; AMINOTRANSFERASE BLOOD LEVEL; ANIMAL CELL; ARTICLE; ASPARTATE AMINOTRANSFERASE BLOOD LEVEL; BILE ACID BLOOD LEVEL; BILIRUBIN BLOOD LEVEL; BROTHER; CASE REPORT; CHILD; CHOLESTASIS; CHRONIC DIARRHEA; CLINICAL ARTICLE; CLINICAL FEATURE; COLONOSCOPY; CONSANGUINEOUS MARRIAGE; COS-1 CELL LINE; DISEASE DURATION; DNA MICROARRAY; FRAMESHIFT MUTATION; HUMAN; INFANTILE DIARRHEA; MALE; NEWBORN JAUNDICE; NONHUMAN; PATIENT IDENTIFICATION; PATIENT REFERRAL; PRIORITY JOURNAL; SCHOOL CHILD; SLC51B DEFICIENCY; VITAMIN BLOOD LEVEL; VITAMIN SUPPLEMENTATION; WHOLE EXOME SEQUENCING; DEFICIENCY; DIARRHEA; GENETICS; METABOLISM; MUTATION; PEDIGREE; PRESCHOOL CHILD; SIBLING; STEATORRHEA;

BILE ACIDS AND SALTS; CHILD; CHILD, PRESCHOOL; CHOLESTASIS; DIARRHEA; HUMANS; MALE; MEMBRANE TRANSPORT PROTEINS; MUTATION; PEDIGREE; SIBLINGS; STEATORRHEA; WHOLE EXOME SEQUENCING;

EID: 85046783098     PISSN: 02709139     EISSN: 15273350     Source Type: Journal    
DOI: 10.1002/hep.29516     Document Type: Article

References (19)

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