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27 in total

1. Identification of a single nucleotide substitution in the coding sequence of in vitro amplified cDNA from a patient with partial HPRT deficiency (HPRTBRISBANE).

Authors: R B Gordon; D G Sculley; P A Dawson; I R Beacham; B T Emmerson
Journal: J Inherit Metab Dis Date: 1990 Impact factor: 4.982

Review 2. Heberden oration 1979: human aberrations of purine metabolism and their significance for rheumatology.

Authors: J E Seegmiller
Journal: Ann Rheum Dis Date: 1980-04 Impact factor: 19.103

3. Metabolic disorders of purine metabolism affecting the nervous system.

Authors: H A Jinnah; Richard L Sabina; Georges Van Den Berghe
Journal: Handb Clin Neurol Date: 2013

4. Use of intact erythrocytes in the diagnosis of inherited purine and pyrimidine disorders.

Authors: L D Fairbanks; H A Simmonds; D R Webster
Journal: J Inherit Metab Dis Date: 1987 Impact factor: 4.982

5. Absence of measurable linkage between the loci for hypoxanthine-guanine phosphoribosyltransferase and deutan colorblindness.

Authors: B T Emmerson; L Thompson; D C Wallace; M A Spence
Journal: Am J Hum Genet Date: 1974-01 Impact factor: 11.025

6. Clinical and biochemical studies on treatment of Lesch-Nyhan syndrome.

Authors: R W Watts; R O McKeran; E Brown; T M Andrews; M I Griffiths
Journal: Arch Dis Child Date: 1974-09 Impact factor: 3.791

Review 7. Clinical and biochemical aspects of uric acid overproduction.

Authors: J García Puig; F A Mateos
Journal: Pharm World Sci Date: 1994-04-15

Review 8. Genotypic and phenotypic spectrum in attenuated variants of Lesch-Nyhan disease.

Authors: Rong Fu; Chung-Jen Chen; H A Jinnah
Journal: Mol Genet Metab Date: 2014-05-28 Impact factor: 4.797

Review 9. Attenuated variants of Lesch-Nyhan disease.

Authors: H A Jinnah; Irene Ceballos-Picot; Rosa J Torres; Jasper E Visser; David J Schretlen; Alfonso Verdu; Laura E Laróvere; Chung-Jen Chen; Antonello Cossu; Chien-Hui Wu; Radhika Sampat; Shun-Jen Chang; Raquel Dodelson de Kremer; William Nyhan; James C Harris; Stephen G Reich; Juan G Puig
Journal: Brain Date: 2010-02-22 Impact factor: 13.501

10. Partial hypoxanthine-guanine phosphoribosyl transferase deficiency with full expression of the Lesch-Nyhan syndrome.

Authors: G Rijksen; G E Staal; M J van der Vlist; F a Beemer; J Troost; W Gutensohn; J P van Laarhoven; C H de Bruyn
Journal: Hum Genet Date: 1981 Impact factor: 4.132