Hypoxanthine-Phosphoribosyltransferase

Search results for Hypoxanthine-Phosphoribosyltransferase

Found 186 articles. Showing from 1 to 10.

Nucleosides, nucleotides & nucleic acids (2008-07-07)
The role for glutamic acid at position 196 in human hypoxanthine phosphoribosyltransferase (HPRT) as investigated using site-directed mutagenesis.

Gerontology (1986-12-15)
Normal thermostability of hypoxanthine guanine phosphoribosyltransferase in erythrocytes from Werner's syndrome patients.

Annals of clinical biochemistry (1986-11-13)
Simple screening methods for hypoxanthine-guanine phosphoribosyltransferase and adenine phosphoribosyltransferase deficiencies using dried blood spots on filter paper.

Nihon rinsho. Japanese journal of clinical medicine (2008-04-15)
[Deficiencies of hypoxanthine guanine phosphoribosyltransferase (HPRT)]

European journal of pediatrics (2008-06-27)
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency due to a newly recognized mutation presenting with renal failure in a one-year-old boy.

Nucleosides, nucleotides & nucleic acids (2008-07-07)
Molecular analysis of hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiencies: novel mutations and the spectrum of Japanese mutations.

Naunyn-Schmiedeberg's archives of pharmacology (2012-06-05)
Impairment of adenylyl cyclase 2 function and expression in hypoxanthine phosphoribosyltransferase-deficient rat B103 neuroblastoma cells as model for Lesch-Nyhan disease: BODIPY-forskolin as pharmacological tool.

Joint, bone, spine (2012-09-19)
Hypoxanthine-guanine phosphoribosyltransferase deficiency in a patient with a Madrid II mutation.

The Journal of rheumatology (2007-04-04)
Identification of a new single-nucleotide mutation on the hypoxanthine-guanine phosphoribosyltransferase gene from 983 cases with gout in Taiwan.

Arthritis and rheumatism (2009-07-14)
Severe gouty arthritis and mild neurologic symptoms due to F199C, a newly identified variant of the hypoxanthine guanine phosphoribosyltransferase.

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