Загрузка...

Utility of phenylalanine hydroxylase genotype for tetrahydrobiopterin responsiveness classification in patients with phenylketonuria

BACKGROUND: A need exists to expand the characterization of tetrahydrobiopterin (BH(4)) responsiveness in patients with phenylketonuria (PKU), beyond simply evaluating change in blood phenylalanine concentrations. The clinical interpretation of BH(4) responsiveness should be evaluated within the con...

Полное описание

Сохранить в:
Библиографические подробности
Главные авторы: Quirk, Meghan E., Dobrowolski, Steven F., Nelson, Benjamin E., Coffee, Bradford, Singh, Rani H.
Формат: Artigo
Язык:Inglês
Опубликовано: 2012
Предметы:
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC4029439/
https://ncbi.nlm.nih.gov/pubmed/22841515
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2012.07.008
Метки: Добавить метку
Нет меток, Требуется 1-ая метка записи!