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...

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Hlavní autoři: 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.
Médium: Artigo
Jazyk:Inglês
Vydáno: American Society of Nephrology 2014
Témata:
Basic Research
On-line přístup: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
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