Comparison of methods of initial ascertainment in 58 cases of propionic acidemia enrolled in the Inborn Errors of Metabolism Information System reveals significant differences in time to evaluation and symptoms at presentation

OBJECTIVES: To compare time to evaluation and symptoms at diagnosis of propionic acidemia (PA) by method of ascertainment and to explore correlations between genotype and biochemical variables. STUDY DESIGN: Clinical symptoms, genotype, and biochemical findings were retrospectively analyzed in 58 in...

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Detaylı Bibliyografya
Yayımlandı:J Pediatr
Asıl Yazarlar: McCrory, Nicholas M., Edick, Mathew J., Ahmad, Ayesha, Lipinski, Susan, Scott Schwoerer, Jessica A., Zhai, Shaohui, Justice, Kaitlin, Cameron, Cynthia A., Berry, Susan A., Pena, Loren D.M.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 2016
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Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC5183466/
https://ncbi.nlm.nih.gov/pubmed/27776753
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jpeds.2016.09.050
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