Beneficial Effect of BH(4) Treatment in a 15-Year-Old Boy with Biallelic Mutations in DNAJC12

Background: Biallelic mutations in DNAJC12 were recently identified as a BH(4)-responsive cause of hyperphenylalaninemia (HPA). Outcome was only favorable when treatment was initiated early in life. We report on a 15-year-old boy with HPA due to a homozygous deletion in DNAJC12 in whom – despite his...

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Vydáno v:JIMD Rep
Hlavní autoři: de Sain-van der Velden, Monique G. M., Kuper, Willemijn F. E., Kuijper, Marie-Anne, van Kats, Lenneke A. T., Prinsen, Hubertus C. M. T., Balemans, Astrid C. J., Visser, Gepke, van Gassen, Koen L. I., van Hasselt, Peter M.
Médium: Artigo
Jazyk:Inglês
Vydáno: Springer Berlin Heidelberg 2018
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6226397/
https://ncbi.nlm.nih.gov/pubmed/29380259
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2017_86
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