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Literature DB >> 8051925

Purine metabolism in Lesch-Nyhan syndrome versus Kelley-Seegmiller syndrome.

E A Mateos¹, J G Puig.

Abstract

Entities: Chemical Disease

Mesh：

Substances：

Year: 1994 PMID： 8051925 DOI： 10.1007/bf00735419

Source DB: PubMed Journal: J Inherit Metab Dis ISSN： 0141-8955 Impact factor: 4.982

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12 in total

1. A FAMILIAL DISORDER OF URIC ACID METABOLISM AND CENTRAL NERVOUS SYSTEM FUNCTION.

Authors: M LESCH; W L NYHAN
Journal: Am J Med Date: 1964-04 Impact factor: 4.965

2. Lesch-Nyhan syndrome with delayed onset of self-mutilation: hyperactivity of interneurons at the brainstem and blink reflex.

Authors: T Hatanaka; H Higashino; M Woo; A Yasuhara; T Sugimoto; Y Kobayashi
Journal: Acta Neurol Scand Date: 1990-02 Impact factor: 3.209

3. The spectrum of hypoxanthine-guanine phosphoribosyltransferase deficiency.

Authors: B T Emmerson; L Thompson
Journal: Q J Med Date: 1973-04

4. Long-term follow-up of ten patients with Lesch-Nyhan syndrome.

Authors: T Mizuno
Journal: Neuropediatrics Date: 1986-08 Impact factor: 1.947

5. Partial deficit of hypoxanthine guanine phosphoribosyl transferase presenting as acute renal failure.

Authors: A Andrés; M Praga; L M Ruilope; J M Martínez; V G Millet; I Bello; J L Rodicio
Journal: Nephron Date: 1987 Impact factor: 2.847

Review 6. Hypoxanthine-guanine phosphoribosyl transferase deficiency.

Authors: C H de Bruyn
Journal: Hum Genet Date: 1976-02-29 Impact factor: 4.132

7. 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

8. Overproduction of uric acid in hypoxanthine-guanine phosphoribosyltransferase deficiency. Contribution by impaired purine salvage.

Authors: N L Edwards; D Recker; I H Fox
Journal: J Clin Invest Date: 1979-05 Impact factor: 14.808

9. Hereditary xanthinuria. Evidence for enhanced hypoxanthine salvage.

Authors: F A Mateos; J G Puig; M L Jiménez; I H Fox
Journal: J Clin Invest Date: 1987-03 Impact factor: 14.808

10. Hypoxanthine-guanine phosphoribosyltransferase variants: correlation of clinical phenotype with enzyme activity.

Authors: T Page; B Bakay; E Nissinen; W L Nyhan
Journal: J Inherit Metab Dis Date: 1981 Impact factor: 4.982

6 in total

1. Do clinical features of Lesch-Nyhan disease correlate more closely with hypoxanthine or guanine recycling?

Authors: David J Schretlen; Wynne Callon; Rebecca E Ward; Rong Fu; Tiffany Ho; Barry Gordon; James C Harris; H A Jinnah
Journal: J Inherit Metab Dis Date: 2015-06-12 Impact factor: 4.982

2. Partial hypoxanthine-guanine phosphoribosyltransferase deficiency presenting as acute renal failure.

Authors: Sarah Cherian; Charles H Crompton
Journal: Pediatr Nephrol Date: 2005-10-21 Impact factor: 3.714

Review 3. 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