<i>COASY</i>-Associated Disorders as a Differential Diagnosis in Cases with Newborn Screening Results Suggestive of CPT-I

<i>COASY</i>-related disorders (CRDs) are a spectrum of autosomal recessive conditions caused by the dysfunction of CoA synthase, an enzyme responsible for the final steps of CoA synthesis. Clinical manifestations of CRDs are highly variable, ranging from perinatal lethal pontocerebellar hypoplasia...

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Главные авторы:	Zinandré Stander, Amy L. White, Matthew Lynch, David Coman, Justin Rosati, Diana Bailey, Jessica Johnson, Bo Hoon Lee, ChinTo Fong, Joseph Orsini, Matthew J. Schultz, Devin Oglesbee, Dimitar Gavrilov, Dietrich Matern, Patricia L. Hall, Silvia Tortorelli
Формат:	Artigo
Язык:	Inglês
Опубликовано:	MDPI AG 2026-04-01
Серии:	International Journal of Neonatal Screening
Предметы:	<i>COASY</i>-related disorders pontocerebellar hypoplasia type 12 <i>COASY</i> protein-associated neurodegeneration with brain accumulation newborn screening carnitine palmitoyltransferase I deficiency co-enzyme A synthase
Online-ссылка:	https://www.mdpi.com/2409-515X/12/2/25
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