Mutations in PCBD1 Cause Hypomagnesemia and Renal Magnesium Wasting

Mutations in PCBD1 are causative for transient neonatal hyperphenylalaninemia and primapterinuria (HPABH4D). Until now, HPABH4D has been regarded as a transient and benign neonatal syndrome without complications in adulthood. In our study of three adult patients with homozygous mutations in the PCBD...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Ferrè, Silvia, de Baaij, Jeroen H.F., Ferreira, Patrick, Germann, Roger, de Klerk, Johannis B.C., Lavrijsen, Marla, van Zeeland, Femke, Venselaar, Hanka, Kluijtmans, Leo A.J., Hoenderop, Joost G.J., Bindels, René J.M.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society of Nephrology 2014
Assuntos:
Basic Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3935582/
https://ncbi.nlm.nih.gov/pubmed/24204001
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1681/ASN.2013040337
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados