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.

Citation data:

The Journal of pediatrics, ISSN: 1097-6833, Vol: 180, Page: 200-205.e8

Publication Year:
2017
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PMID:
27776753
DOI:
10.1016/j.jpeds.2016.09.050
PMCID:
PMC5183466
Author(s):
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, Inborn Errors of Metabolism Collaborative Show More Hide
Publisher(s):
Elsevier BV
Tags:
Medicine
article description
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.

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