A case of hyperinsulinism/hyperammonaemia syndrome with reduced carbamoyl-phosphate synthetase-1 activity in liver: A pitfall in enzymatic diagnosis for hyperammonaemia

Journal of Inherited Metabolic Disease

Volumn 28, Issue 5, 2005, Pages 681-687

  Ihara, K ^a   Miyako, K ^a   Ishimura, M ^a   Kuromaru, R ^a   Wang, H Y ^b   Yasuda, K ^b   Hara, T ^a  

^a KYUSHU UNIVERSITY   (Japan)

^b NATIONAL CENTER FOR GLOBAL HEALTH AND MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

AMMONIA; ARGININE; BENZOIC ACID; CARBAMOYL PHOSPHATE SYNTHASE; GROWTH HORMONE; INSULIN;

ADOLESCENT; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CLINICAL PROTOCOL; DIAGNOSTIC VALUE; DISORDERS OF AMINO ACID AND PROTEIN METABOLISM; DRUG EFFICACY; ENZYME ACTIVITY; ENZYME ASSAY; FEMALE; GENE MUTATION; GROWTH HORMONE DEFICIENCY; HOSPITAL ADMISSION; HUMAN; HYPERAMMONEMIA; HYPERINSULINISM; INSULIN SENSITIVITY; LIVER BIOPSY; PROTEIN RESTRICTION; REMISSION; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; TREATMENT OUTCOME;

ADOLESCENT; AMMONIA; CARBAMOYL-PHOSPHATE SYNTHASE (AMMONIA); DIAGNOSIS, DIFFERENTIAL; DNA, COMPLEMENTARY; EXONS; FEMALE; GLUCOSE; GLUTAMATE DEHYDROGENASE; HUMANS; HYPERAMMONEMIA; HYPERINSULINISM; LIVER; LIVER EXTRACTS; METABOLISM, INBORN ERRORS; MUTATION; SEQUENCE ANALYSIS, DNA; SYNDROME; TIME FACTORS;

EID: 25144441232     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-005-0084-z     Document Type: Article

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