Neonatal intrahepatic cholestasis associated with citrin deficiency (NICCD): A case series of 11 Malaysian patients

Journal of Inherited Metabolic Disease

Volumn 33, Issue SUPPL. 3, 2010, Pages

  Chew, Hui Bein ^a,b   Ngu, Lock Hock ^a   Zabedah, Md Yunus ^c   Keng, Wee Teik ^b   Balasubramaniam, Shanti ^b   Hanifah, Mohd Jamil M ^d   Kobayashi, Keiko ^e  

^a UNIVERSITY MALAYA MEDICAL CENTRE   (Malaysia)

^b HOSPITAL KUALA LUMPUR   (Malaysia)

^c INSTITUTE FOR MEDICAL RESEARCH   (Malaysia)

^d Department of Paediatrics   (Malaysia)

^e KAGOSHIMA UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

BIOLOGICAL MARKER; CARRIER PROTEIN; CITRULLINE; SLC25A13 PROTEIN, HUMAN;

ARTICLE; ASIAN; BLOOD; CASE REPORT; CITRULLINEMIA; ETHNOLOGY; EXON; FATALITY; FEMALE; GENETIC PREDISPOSITION; GENETICS; HEREDITY; HUMAN; INFANT; LIVER FAILURE; MALAYSIA; MALE; METABOLISM; MUTATION; NEWBORN; NUCLEOTIDE SEQUENCE; OBSTRUCTIVE JAUNDICE; PEDIGREE; PHENOTYPE; PROGNOSIS; TIME; ASIAN CONTINENTAL ANCESTRY GROUP; COMPLICATION; DNA MUTATIONAL ANALYSIS; EPIDEMIOLOGY; JAUNDICE, OBSTRUCTIVE; TIME FACTOR;

ASIAN CONTINENTAL ANCESTRY GROUP; BIOLOGICAL MARKERS; CITRULLINE; CITRULLINEMIA; DNA MUTATIONAL ANALYSIS; EXONS; FATAL OUTCOME; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HEREDITY; HUMANS; INFANT; INFANT, NEWBORN; JAUNDICE, OBSTRUCTIVE; LIVER FAILURE; MALAYSIA; MALE; MITOCHONDRIAL MEMBRANE TRANSPORT PROTEINS; MUTATION; PEDIGREE; PHENOTYPE; PROGNOSIS; TIME FACTORS; BIOMARKERS;

EID: 84897956728     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-010-9248-6     Document Type: Article

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