Neonatal presentation of adult-onset type II citrullinemia

Human Genetics

Volumn 108, Issue 2, 2001, Pages 87-90

  Ohura, T ^a   Kobayashi, K ^a   Tazawa, Y ^a   Nishi, I ^a   Abukawa, D ^a   Sakamoto, O ^a   Iinuma, K ^a   Saheki, T ^a  

^a TOHOKU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; CITRULLINE; DNA; LACTOSE; MEDIUM CHAIN TRIACYLGLYCEROL; METHIONINE; VITAMIN;

AMINO ACID BLOOD LEVEL; AMINOACIDEMIA; ARTICLE; BIOCHEMISTRY; CASE REPORT; CHILD; CITRULLINEMIA; DISEASE ASSOCIATION; FEMALE; FOLLOW UP; GALACTOSEMIA; GENE MUTATION; GENETIC ANALYSIS; HETEROZYGOTE; HOMOZYGOTE; HUMAN; INFANT; INTRAHEPATIC CHOLESTASIS; LIVER DISEASE; MALE; NEWBORN PERIOD; NEWBORN SCREENING; ONSET AGE; PRIORITY JOURNAL; SIBLING; VITAMIN SUPPLEMENTATION;

ADULT; BASE SEQUENCE; CHOLESTASIS, INTRAHEPATIC; CITRULLINEMIA; DNA PRIMERS; FEMALE; HETEROZYGOTE; HUMANS; INFANT, NEWBORN; MUTATION; SEQUENCE ANALYSIS, DNA;

EID: 0035099306     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390000448     Document Type: Article

References (12)

1. Neonatal hepatitis
2. Transient infantile hypermethioninemia
3. A search for the primary abnormality in adult-onset type II citrullinemia
4. Nature and frequency of mutations in the argininosuccinate synthetase gene that cause classical citrulinemia
5. Pancreatic secretary trypsin inhibitor as a diagnostic marker for adult-onset type II citrullinemia
6. The gene mutated in adult-onset type II citrullinemia encodes a putative mitochondrial carrier protein
7. Disturbances of amino acid metabolism in infants with idiopathic neonatal hepatitis
8. Serum amino acid pattern of type II citrullinemic patients and effect of oral administration of citrulline
9. Hereditary disorders of the urea cycle in man: Biochemical and molecular approaches
10. Urea cycle disorders and other hereditary hyperammonemic syndromes
11. Identification of two novel mutations in SLC25A13 gene and detection of seven mutations in 102 patients with adult-onset type II citrullinemia