Literature DB >> 5678000

Urine uric acid to creatinine rtio--a screening test for inherited disorders of purine metabolism. Phosphoribosyltransferase (PRT) deficiency in X-linked cerebral palsy and in a variant of gout.

J M Kaufman, M L Greene, J E Seegmiller.   

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Year:  1968        PMID: 5678000     DOI: 10.1016/s0022-3476(68)80274-4

Source DB:  PubMed          Journal:  J Pediatr        ISSN: 0022-3476            Impact factor:   4.406


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  33 in total

1.  Spot urine samples for evaluating solute excretion in the first week of life.

Authors:  V Matos; A Drukker; J P Guignard
Journal:  Arch Dis Child Fetal Neonatal Ed       Date:  1999-05       Impact factor: 5.747

2.  A six-month-old infant with liver steatosis.

Authors:  Michael O Stormon; Ernest Cutz; Katryn Furuya; Melanie Bedford; Laura Yerkes; Dean R Tolan; Annette Feigenbaum
Journal:  J Pediatr       Date:  2004-02       Impact factor: 4.406

3.  Developmental disorder associated with increased cellular nucleotidase activity.

Authors:  T Page; A Yu; J Fontanesi; W L Nyhan
Journal:  Proc Natl Acad Sci U S A       Date:  1997-10-14       Impact factor: 11.205

4.  Urinary calcium to creatinin ratio in children.

Authors:  Hadi Sorkhi; Mahmmod Haji Aahmadi
Journal:  Indian J Pediatr       Date:  2005-12       Impact factor: 1.967

Review 5.  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

6.  Validation of a urine test and characterization of the putative genetic mutation for hyperuricosuria in Bulldogs and Black Russian Terriers.

Authors:  Nili Karmi; Noa Safra; Amy Young; Danika L Bannasch
Journal:  Am J Vet Res       Date:  2010-08       Impact factor: 1.156

7.  Hypoxanthine phosphoribosyltransferase activity in intact fibroblasts from patients with X-linked hyperuricemia.

Authors:  M J Holland; A M DiLorenzo; J Dancis; M E Balis; T F Yü; R P Cox
Journal:  J Clin Invest       Date:  1976-06       Impact factor: 14.808

Review 8.  Clinical and biochemical aspects of uric acid overproduction.

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

Review 9.  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

10.  Double-blind clinical trial of 5-hydroxytryptophan in a case of Lesch-Nyhan syndrome.

Authors:  C D Frith; E C Johnston; M H Joseph; R J Powell; R W Watts
Journal:  J Neurol Neurosurg Psychiatry       Date:  1976-07       Impact factor: 10.154

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