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...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2021
Materias:
Research Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8260482/
https://www.ncbi.nlm.nih.gov/pubmed/34258142
http://dx.doi.org/10.1002/jmd2.12217

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8260482/
https://www.ncbi.nlm.nih.gov/pubmed/34258142
http://dx.doi.org/10.1002/jmd2.12217

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