Literature DB >> 21171235

Needles in haystacks: the challenges of rare diseases.

Hyder A Jinnah1.   

Abstract

Entities:  

Mesh：

Year:  2011        PMID： 21171235      PMCID： PMC3059553          DOI： 10.1111/j.1469-8749.2010.03791.x

Source DB:  PubMed          Journal:  Dev Med Child Neurol        ISSN： 0012-1622            Impact factor:   5.449


× No keyword cloud information.
  5 in total

1.  The spectrum of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency. Clinical experience based on 22 patients from 18 Spanish families.

Authors:  J G Puig; R J Torres; F A Mateos; T H Ramos; J M Arcas; A S Buño; P O'Neill
Journal:  Medicine (Baltimore)       Date:  2001-03       Impact factor: 1.889

2.  A population study of Lesch-Nyhan disease in the UK.

Authors:  Gillian T McCarthy; Elizabeth M Green; Oluwafemi Ogunbona; H Anne Simmonds; Lynette Fairbanks; Terry Pountney; Elizabeth Bryant
Journal:  Dev Med Child Neurol       Date:  2010-09-24       Impact factor: 5.449

Review 3.  The spectrum of inherited mutations causing HPRT deficiency: 75 new cases and a review of 196 previously reported cases.

Authors:  H A Jinnah; L De Gregorio; J C Harris; W L Nyhan; J P O'Neill
Journal:  Mutat Res       Date:  2000-10       Impact factor: 2.433

Review 4.  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

Review 5.  Delineation of the motor disorder of Lesch-Nyhan disease.

Authors:  H A Jinnah; Jasper E Visser; James C Harris; Alfonso Verdu; Laura Larovere; Irene Ceballos-Picot; Pedro Gonzalez-Alegre; Vladimir Neychev; Rosa J Torres; Olivier Dulac; Isabelle Desguerre; David J Schretlen; Kenneth L Robey; Gabor Barabas; Bastiaan R Bloem; William Nyhan; Raquel De Kremer; Gary E Eddey; Juan G Puig; Stephen G Reich
Journal:  Brain       Date:  2006-03-20       Impact factor: 13.501
  5 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.