Article
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.
The Journal of pediatrics - 1 Jan 2017
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
Abstract excerpt
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 analyzed retrospectively in 58 individuals with PA enrolled in the Inborn Errors of Metabolism Information System (IBEM-IS) based on the type of...
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