Time course of acylcarnitine elevation in neonatal intrahepatic cholestasis caused by citrin deficiency

Journal of Inherited Metabolic Disease

Volumn 29, Issue 4, 2006, Pages 551-555

  Lee, Ni Chung ^a   Chien, Yin Hsiu ^a   Kobayashi, Keiko ^b   Saheki, Takeyori ^b   Chen, Huey Ling ^a   Chiu, Pao Chin ^c   Ni, Yen Hsuan ^a   Chang, Mei Hwei ^a   Hwu, Wuh Liang ^a  

^a NATIONAL TAIWAN UNIVERSITY HOSPITAL   (Taiwan)

^b KAGOSHIMA UNIVERSITY   (Japan)

^c KAOHSIUNG VETERANS GENERAL HOSPITAL   (Taiwan)

Author keywords

[No Author keywords available]

Indexed keywords

ACYLCARNITINE; ALANINE AMINOTRANSFERASE; ASPARTATE AMINOTRANSFERASE; BILIRUBIN; CARNITINE; CITRULLINE; LIVER ENZYME;

ALANINE AMINOTRANSFERASE BLOOD LEVEL; AMINO ACID ANALYSIS; AMINO ACID BLOOD LEVEL; ARTIFICIAL MILK; ASPARTATE AMINOTRANSFERASE BLOOD LEVEL; BILIRUBIN BLOOD LEVEL; BREAST FEEDING; CASE REPORT; CITRULLINEMIA; CLINICAL FEATURE; CONTROLLED STUDY; DIET SUPPLEMENTATION; DISEASE COURSE; GENE DELETION; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; INBORN ERROR OF METABOLISM; INFANT; LIVER BIOPSY; LIVER FUNCTION; MEDICAL RECORD REVIEW; MUTATIONAL ANALYSIS; NEWBORN INTRAHEPATIC CHOLESTASIS CAUSED BY CITRIN DEFICIENCY; NEWBORN SCREENING; PATHOPHYSIOLOGY; REVIEW; TIME SERIES ANALYSIS;

ALANINE; AMINO ACID METABOLISM, INBORN ERRORS; CALCIUM-BINDING PROTEINS; CARNITINE; CHOLESTASIS, INTRAHEPATIC; HUMANS; INFANT; INFANT, NEWBORN; MASS SPECTROMETRY; MEMBRANE TRANSPORT PROTEINS; MODELS, BIOLOGICAL; NEONATAL SCREENING; ORGANIC ANION TRANSPORTERS; TIME FACTORS;

EID: 33746883497     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-006-0250-y     Document Type: Review

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