Literature DB >> 1359249

Distinct neurological syndrome in two brothers with hyperuricaemia.

H J Christen, F Hanefeld, J A Duley, H A Simmonds.   

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Year:  1992        PMID： 1359249     DOI： 10.1016/0140-6736(92)93202-x

Source DB:  PubMed          Journal:  Lancet        ISSN： 0140-6736            Impact factor:   79.321


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  10 in total

Review 1.  When to investigate for purine and pyrimidine disorders. Introduction and review of clinical and laboratory indications.

Authors:  H A Simmonds; J A Duley; L D Fairbanks; M B McBride
Journal:  J Inherit Metab Dis       Date:  1997-06       Impact factor: 4.982

Review 2.  Transient neonatal diabetes, a disorder of imprinting.

Authors:  I K Temple; J P H Shield
Journal:  J Med Genet       Date:  2002-12       Impact factor: 6.318

Review 3.  PRPS1 mutations: four distinct syndromes and potential treatment.

Authors:  Arjan P M de Brouwer; Hans van Bokhoven; Sander B Nabuurs; Willem Frans Arts; John Christodoulou; John Duley
Journal:  Am J Hum Genet       Date:  2010-04-09       Impact factor: 11.025

4.  Aetiopathology and genetic basis of neonatal diabetes.

Authors:  J P Shield; R J Gardner; E J Wadsworth; M L Whiteford; R S James; D O Robinson; J D Baum; I K Temple
Journal:  Arch Dis Child Fetal Neonatal Ed       Date:  1997-01       Impact factor: 5.747

Review 5.  Clinical and biochemical aspects of uric acid overproduction.

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

Review 6.  When and how does one search for inborn errors of purine and pyrimidine metabolism?

Authors:  H A Simmonds
Journal:  Pharm World Sci       Date:  1994-04-15

7.  Arts syndrome is caused by loss-of-function mutations in PRPS1.

Authors:  Arjan P M de Brouwer; Kelly L Williams; John A Duley; André B P van Kuilenburg; Sander B Nabuurs; Michael Egmont-Petersen; Dorien Lugtenberg; Lida Zoetekouw; Martijn J G Banning; Melissa Roeffen; Ben C J Hamel; Linda Weaving; Robert A Ouvrier; Jennifer A Donald; Ron A Wevers; John Christodoulou; Hans van Bokhoven
Journal:  Am J Hum Genet       Date:  2007-08-03       Impact factor: 11.025

8.  Inborn errors of purine metabolism: clinical update and therapies.

Authors:  Shanti Balasubramaniam; John A Duley; John Christodoulou
Journal:  J Inherit Metab Dis       Date:  2014-06-28       Impact factor: 4.982

Review 9.  New developments in the epidemiology and genetics of gout.

Authors:  Raihana Zaka; Charlene J Williams
Journal:  Curr Rheumatol Rep       Date:  2006-06       Impact factor: 4.686

Review 10.  Neonatal diabetes mellitus: a disease linked to multiple mechanisms.

Authors:  Michel Polak; Hélène Cavé
Journal:  Orphanet J Rare Dis       Date:  2007-03-09       Impact factor: 4.123
  10 in total

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