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...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:JIMD Rep
Päätekijät: 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
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: John Wiley & Sons, Inc. 2020
Aiheet:
Research Reports
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC7653239/
https://ncbi.nlm.nih.gov/pubmed/33204598
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jmd2.12153
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