Transient fulminant liver failure as an initial presentation in citrullinemia type I

Molecular Genetics and Metabolism

Volumn 102, Issue 4, 2011, Pages 413-417

  Faghfoury, Hannaneh ^a,e   Baruteau, Julian ^b   Ogier de Baulny, Helene ^c   Häberle, Johannes ^d   Schulze, Andreas ^a  

^a HOSPITAL FOR SICK CHILDREN   (Canada)

^b HÔPITAL ROBERT DEBRÉ   (France)

^c HÔPITAL DES ENFANTS   (France)

^d UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^e UNIVERSITY HEALTH NETWORK   (Canada)

Author keywords

Citrullinemia; CTLN1; Hepatitis; Liver failure; Liver transplantation; Urea cycle defect

Indexed keywords

4 PHENYLBUTYRIC ACID; ALANINE AMINOTRANSFERASE; ARGININE; ARGININOSUCCINATE SYNTHASE; ASPARTATE AMINOTRANSFERASE; BENZOIC ACID; BENZOIC ACID PLUS PHENYLACETIC ACID; CARNITINE; GLUCOSE;

ALANINE AMINOTRANSFERASE BLOOD LEVEL; ALLELE; AMINO ACID ANALYSIS; AMINO ACID SUBSTITUTION; ARTICLE; ASPARTATE AMINOTRANSFERASE BLOOD LEVEL; BRAIN DISEASE; CASE REPORT; CHILD; CITRULLINEMIA; DIETARY INTAKE; EMERGENCY TREATMENT; FEMALE; FULMINANT HEPATIC FAILURE; GENE MUTATION; GENETIC ANALYSIS; GENETIC TRANSCRIPTION; HUMAN; HYPERAMMONEMIA; INFANT; LIVER FUNCTION; LIVER FUNCTION TEST; LIVER TRANSPLANTATION; LOADING DRUG DOSE; MALE; NEUROLOGIC EXAMINATION; PHYSICAL EXAMINATION; PRESCHOOL CHILD; PRIORITY JOURNAL; SEIZURE; SEQUENCE ANALYSIS; TREATMENT RESPONSE;

AMMONIA; ARGININOSUCCINATE SYNTHASE; BASE SEQUENCE; CITRULLINE; CITRULLINEMIA; FATTY LIVER; FEMALE; HUMANS; INFANT; INTERNATIONAL NORMALIZED RATIO; LIVER; LIVER FAILURE, ACUTE; MALE; MOLECULAR SEQUENCE DATA; MUTAGENESIS, INSERTIONAL; MUTATION, MISSENSE; RNA SPLICE SITES; SEIZURES; TRANSAMINASES; VOMITING;

EID: 79952629738     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2010.12.007     Document Type: Article

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