The low excretor phenotype of glutaric acidemia type I is a source of false negative newborn screening results and challenging diagnoses

BACKGROUND: Glutaric acidemia type I (GA1) is an organic acidemia that is often unrecognized in the newborn period until patients suffer an acute encephalopathic crisis, which can be mistaken for nonaccidental trauma. Presymptomatic identification of GA1 patients is possible by newborn screening (NB...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:JIMD Rep
Prif Awduron: Guenzel, Adam J., Hall, Patricia L., Scott, Anna I., Lam, Christina, Chang, Irene J., Thies, Jenny, Ferreira, Carlos R., Pichurin, Pavel, Laxen, William, Raymond, Kimiyo, Gavrilov, Dimitar K., Oglesbee, Devin, Rinaldo, Piero, Matern, Dietrich, Tortorelli, Silvia
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: John Wiley & Sons, Inc. 2021
Pynciau:
Research Reports
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC8260482/
https://ncbi.nlm.nih.gov/pubmed/34258142
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jmd2.12217
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