Newborn Screening for Vitamin B(6) Non-responsive Classical Homocystinuria: Systematical Evaluation of a Two-Tier Strategy

Background: In classical homocystinuria (HCU, MIM# 236200) due to the deficiency of cystathionine β-synthase (EC 4.2.1.22) there is a clear evidence for the success of early treatment. The aim of this study was to develop and evaluate a two-tier strategy for HCU newborn screening. Methods: We reeval...

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Publicado no:JIMD Rep
Main Authors: Okun, Jürgen G., Gan-Schreier, Hongying, Ben-Omran, Tawfeq, Schmidt, Kathrin V., Fang-Hoffmann, Junmin, Gramer, Gwendolyn, Abdoh, Ghassan, Shahbeck, Noora, Al Rifai, Hilal, Al Khal, Abdul Latif, Haege, Gisela, Chiang, Chuan-Chi, Kasper, David C., Wilcken, Bridget, Burgard, Peter, Hoffmann, Georg F.
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Berlin Heidelberg 2016
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5362558/
https://ncbi.nlm.nih.gov/pubmed/27325427
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2016_556
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