A carregar...

Genetic basis of cystinosis in Turkish patients: a single-center experience

We report the molecular findings for the CTNS gene in 12 Turkish cystinosis patients aged 7–29 years. All presented initially with severe failure to thrive, polyuria, and polydipsia. Cystinosis was diagnosed at age 1 month to 9 years. Seven patients reached end-stage renal failure at ages ranging fr...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Topaloglu, Rezan, Vilboux, Thierry, Coskun, Turgay, Ozaltin, Fatih, Tinloy, Brad, Gunay-Aygun, Meral, Bakkaloglu, Aysin, Besbas, Nesrin, van den Heuvel, Lambert, Kleta, Robert, Gahl, William A.
Formato: Artigo
Idioma:Inglês
Publicado em: 2011
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3501933/
https://ncbi.nlm.nih.gov/pubmed/21786142
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00467-011-1942-6
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!