Possible clinical and histologic manifestations of adult-onset type II citrullinemia in early infancy

Journal of Pediatrics

Volumn 138, Issue 5, 2001, Pages 741-743

  Tomomasa, Takeshi ^a,b,c   Kobayashi, Keiko ^a,b,c   Kaneko, Hiroaki ^a,b,c   Shimura, Hanae ^a,b,c   Fukusato, Toshio ^a,b,c   Tabata, Masahiko ^a,b,c   Inoue, Yoshinari ^a,b,c   Ohwada, Susumu ^a,b,c   Kasahara, Mureo ^a,b,c   Morishita, Yasuo ^a,b,c   Kimura, Masahiko ^a,b,c   Saheki, Takeyori ^a,b,c   Morikawa, Akihiro ^a,b,c  

^a GUNMA UNIVERSITY   (Japan)

^b KAGOSHIMA UNIVERSITY   (Japan)

^c SHIMANE UNIVERSITY FACULTY OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CASE REPORT; CITRULLINEMIA; FATTY LIVER; FEMALE; GENETIC ANALYSIS; HISTOPATHOLOGY; HUMAN; HYPOPROTEINEMIA; INFANT; JAUNDICE; LIVER FIBROSIS; MALE; PRIORITY JOURNAL;

EID: 0035005987     PISSN: 00223476     EISSN: None     Source Type: Journal    
DOI: 10.1067/mpd.2001.113361     Document Type: Article

References (8)

1. Hereditary disorders of the urea cycle in man: Biochemical and molecular approaches
2. Urea cycle enzymes
3. Type II citrullinemia (citrin deficiency): A mysterious disease caused by a defect of calcium-binding mitochondrial carrier protein
4. Pancreatic secretory trypsin inhibitor as a diagnostic marker for adult-onset type II citrullinemia
5. Messenger RNA coding for argininosuccihate synthetase in citrullinemia
6. A search for the primary abnormality in adult-onset type II citrullinemia
7. The gene mutated in adult-onset type II citrullinemia encodes a putative mitochondrial carrier protein
8. Living-related liver transplantation for type II citrullinemia using a graft from heterozygote donor