Severe hyperammonaemia in a previously healthy teenager

Annals of Clinical Biochemistry

Volumn 37, Issue 5, 2000, Pages 727-728

  Galloway, P J ^a   MacPhee, G B ^a   Galea, P ^a   Robinson, P H ^a  

^a ROYAL HOSPITAL FOR SICK CHILDREN   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ORNITHINE CARBAMOYLTRANSFERASE;

ADOLESCENT; ANAMNESIS; ARTICLE; CASE REPORT; CLINICAL FEATURE; DIAGNOSTIC APPROACH ROUTE; DISEASE COURSE; ENZYME DEFICIENCY; FAMILY HISTORY; GENE MUTATION; GENETIC RISK; HUMAN; HYPERAMMONEMIA; INBORN ERROR OF METABOLISM; LABORATORY TEST; MALE; PHYSICAL EXAMINATION; PRIORITY JOURNAL; RISK FACTOR;

EID: 0033812453     PISSN: 00045632     EISSN: None     Source Type: Journal    
DOI: 10.1258/0004563001899807     Document Type: Article

References (5)

1. Clinical approach to inherited metabolic diseases
2. The biochemical and molecular spectrum of ornithine transcarbamylase deficiency
3. Ornithine carbamoyl transferase deficiency: Findings, models and problems
4. A novel two-nucleotide deletion in the ornithine transcarbamylase gene causing fatal hyperammonia in early pregnancy
5. Hyperammonaemic coma due to parenteral nutrition in a woman with heterozygous ornithine transcarbamylase deficiency