Partial HPRT deficiency (Kelley - Seegmiller syndrome)

Journal of Association of Physicians of India

Volumn 54, Issue JAN., 2006, Pages 49-52

  Saigal, Renu ^a   Chakraborty, A ^a   Yadav, R N ^a   Prashant, R K ^a  

^a SMS MEDICAL COLLEGE   (India)

Author keywords

[No Author keywords available]

Indexed keywords

HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE; PURINE DERIVATIVE;

ADULT; ARTICLE; BINDING SITE; CASE REPORT; ENZYMOLOGY; ERYTHROCYTE; GENETICS; GOUT; HUMAN; HYPERURICEMIA; INBORN ERROR OF METABOLISM; LYMPHOCYTE; MALE; METABOLISM; MUTATION; SYNDROME;

ADULT; ARTHRITIS, GOUTY; BINDING SITES; ERYTHROCYTES; HUMANS; HYPERURICEMIA; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE; LYMPHOCYTES; MALE; METABOLISM, INBORN ERRORS; MUTATION; PURINES; SYNDROME;

EID: 29844458538     PISSN: 00045772     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (6)

1. Kelley WN, Greene ML, Rosenbloom FM, Henderson JF, Seegmiller JE. Hypoxanthine guanine Phosphoribosyl transferase deficiency in gout. Ann Intern Med 1969;70:155.
2. th ed. Kelley's Textbook of Rheumatology W.B. Saunders 1311-12.
3. Khattak FH, Morris IM, Harris K. Br J Rheumatol 1997;37:580-82.
4. Nyhan WL, Wong DF. The new approaches to understanding Lesch-Nyhan syndrome. N Engl J Med 1996;334:1602-4.
5. Greene ML. Clinical features of patients with the partial deficiency of the X-linked uric aciduria enzyme. Arch Intern Med 1972;130:193-8.
6. th ed. New York, NY : McGrew - Hill; 2001:2571-84.