Utility of specific amino acid ratios in screening for pyruvate dehydrogenase complex deficiencies and other mitochondrial disorders associated with congenital lactic acidosis and newborn screening prospects

Pyruvate dehydrogenase complex deficiencies (PDCDs) and other mitochondrial disorders (MtDs) can (a) result in congenital lactic acidosis with elevations of blood alanine (Ala) and proline (Pro), (b) lead to decreased ATP production, and (c) result in high morbidity and mortality. With ~140,000 live...

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Detalles Bibliográficos
Autores principales: Bedoyan, Jirair K., Hage, Rosemary, Shin, Ha Kyung, Linard, Sharon, Ferren, Edwin, Ducich, Nicole, Wilson, Kirkland, Lehman, April, Schillaci, Lori‐Anne, Manickam, Kandamurugu, Mori, Mari, Bartholomew, Dennis, DeBrosse, Suzanne, Cohen, Bruce, Parikh, Sumit, Kerr, Douglas
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2020
Materias:
Research Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7653239/
https://www.ncbi.nlm.nih.gov/pubmed/33204598
http://dx.doi.org/10.1002/jmd2.12153

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