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31 in total

1. Rapid prenatal diagnosis of HG-PRT deficiency using ultra-microchemical methods.

Authors: P Hösli; C H de Bruyn; F J Oerlemans; M Verjaal; R E Nobrega
Journal: Hum Genet Date: 1977-06-30 Impact factor: 4.132

2. Genetic heterogeneity in inherited disease.

Authors: H Harris
Journal: J Clin Pathol Suppl (R Coll Pathol) Date: 1974

3. Electrophoretic properties of hypoxanthine-guanine phosphoribosyl transferase in erythrocytes of subjects with Lesch-Nyhan syndrome.

Authors: B Bakay; W L Nyhan
Journal: Biochem Genet Date: 1972-04 Impact factor: 1.890

4. Heterogeneity in the biochemical characteristics of red blood cell hypoxanthine-guanine phosphoribosyl transferase from two unrelated patients with the Lesch-Nyhan syndrome.

Authors: B J Richardson; D L Ryckman; L M Komarnicki; J L Hamerton
Journal: Biochem Genet Date: 1973-06 Impact factor: 1.890

5. 8-Azaguanine resistance in mammalian cells. I. Hypoxanthine-guanine phosphoribosyltransferase.

Authors: F D Gillin; D J Roufa; A L Beaudet; C T Caskey
Journal: Genetics Date: 1972-10 Impact factor: 4.562

6. Hypoxanthine-guanine phosphoribosyltransferase deficiency in three brothers with gout: characterization of a variant, HPRTEdinburgh, having altered isoelectric point, increased thermal lability and normal levels of messenger RNA.

Authors: F F Snyder; J E Joyce; T Carter-Edwards; R Joshi; H L Rylance; R C Wallace; G Nuki
Journal: J Inherit Metab Dis Date: 1989 Impact factor: 4.982

10. [Properties of hypoxanthineguanine-phosphoribosyltransferase (HGPRTase) in a gout patient with partial deficiency of this enzyme (author's transl)].

Authors: W Gröbner; N Zöllner
Journal: Klin Wochenschr Date: 1979-01-15

Studies on hypoxanthine-guanine phosphoribosyltransferase in fibroblasts from patients with the Lesch-Nyhan syndrome. Evidence for genetic heterogeneity.