Neonatal intrahepatic cholestasis caused by citrin deficiency: Severe hepatic dysfunction in an infant requiring liver transplantation

European Journal of Pediatrics

Volumn 161, Issue 11, 2002, Pages 609-613

  Tamamori, Akiko ^a   Okano, Yoshiyuki ^b   Ozaki, Hajime ^c   Fujimoto, Akie ^d   Kajiwara, Masue ^e   Fukuda, Kazuyoshi ^e   Kobayashi, Keiko ^f   Saheki, Takeyori ^f   Tagami, Yasuko ^g   Yamano, Tsunekazu ^b  

^a Fujiidera City Hospital   (Japan)

^b OSAKA CITY UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^c OSAKA CITY GENERAL HOSPITAL   (Japan)

^d Osaka City Environment and Public Health Association   (Japan)

^e NARA MEDICAL UNIVERSITY   (Japan)

^f KAGOSHIMA UNIVERSITY   (Japan)

^g Sapporo City Institute of Public Health   (Japan)

Author keywords

Argininosuccinate synthetase; Cholestasis; Citrin; Citrullinaemia; Liver transplantation

Indexed keywords

PROTEIN; PROTEIN CITRIN; UNCLASSIFIED DRUG;

ARTICLE; CITRULLINEMIA; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE SEVERITY; FEMALE; GENETIC ANALYSIS; HETEROZYGOSITY; HISTOPATHOLOGY; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; INTRAHEPATIC CHOLESTASIS; LABORATORY TEST; LIVER TRANSPLANTATION; MALE; NEWBORN; NEWBORN DISEASE; PRIORITY JOURNAL; TREATMENT OUTCOME;

CALCIUM-BINDING PROTEINS; CHOLESTASIS, INTRAHEPATIC; CITRULLINEMIA; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; LIVER TRANSPLANTATION; LIVING DONORS; MALE; MEMBRANE TRANSPORT PROTEINS; MITOCHONDRIAL PROTEINS; MUTATION; ORGANIC ANION TRANSPORTERS; REMISSION, SPONTANEOUS;

EID: 0036460375     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00431-002-1045-2     Document Type: Article

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