The recognition of Lesch-Nyhan syndrome as an inborn error of purine metabolism

Journal of Inherited Metabolic Disease

Volumn 20, Issue 2, 1997, Pages 171-178

  Nyhan, W L ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AZATHIOPRINE; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE; IMMUNOSUPPRESSIVE AGENT; PURINE; URIC ACID;

CASE REPORT; CONFERENCE PAPER; CRYSTALLURIA; DISEASE SEVERITY; ENZYME DEFICIENCY; GENE MUTATION; HEMATURIA; HUMAN; INBORN ERROR OF METABOLISM; ISOTOPE LABELING; LESCH NYHAN SYNDROME; MALE; NEUROLOGIC DISEASE; PHENOTYPE; PRESCHOOL CHILD; PURINE METABOLISM; TURNOVER TIME; URIC ACID BLOOD LEVEL; URIC ACID URINE LEVEL;

HUMANS; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE; LESCH-NYHAN SYNDROME; MALE; PURINE-PYRIMIDINE METABOLISM, INBORN ERRORS;

EID: 0030917368     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005348504512     Document Type: Conference Paper

References (16)

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