Early cirrhosis in a patient with type I citrullinaemia (CTLN1)

Journal of Inherited Metabolic Disease

Volumn 27, Issue 4, 2004, Pages 541-542

  Gucer S ^a   Asan E ^a   Atilla, P ^a   Tokatl, A ^a   Caglar M ^a  

^a HACETTEPE UNIVERSITY   (Turkey)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININOSUCCINATE SYNTHASE;

AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CHILD; CITRULLINEMIA; CLINICAL FEATURE; DISEASE CLASSIFICATION; FEMALE; GENE MUTATION; HEPATIC ENCEPHALOPATHY; HOMOZYGOSITY; HOSPITAL ADMISSION; HUMAN; HYPERAMMONEMIA; INTRON; LIVER CIRRHOSIS; LIVER STRUCTURE; PROTEIN PROCESSING;

ARGININOSUCCINATE SYNTHASE; CITRULLINEMIA; FEMALE; HOMOZYGOTE; HUMANS; INFANT; INTRONS; LIVER CIRRHOSIS; MUTATION; RNA SPLICING;

EID: 4344609708     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/B:BOLI.0000037401.63596.de     Document Type: Article

References (3)

1. Brusilow SW, Horwich AL (2001) Urea cycle enzymes. In Scriver CR, Beaudet AL, Valle D, Sly WS, eds; Childs B, Kinzler KW, Vogelstein B, assoc. eds. The Metabolic and Molecular Bases of Inherited Disease, 8th edn, vol II. New York: McGraw-Hill, 1909-1963.
2. Mori T, Nagai K, Mori M, et al (2002) Progressive liver fibrosis in late-onset argininosuccinate lyase deficiency. Pediatr Dev Pathol 5: 597-601.
3. Zamora SA, Pinto A, Scott RB, Parsons HG (1997) Mitochondrial abnormalities in liver in two children with citrullinemia. J Inherit Metab Dis 20: 509-516.