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Medium‐chain Acyl‐COA dehydrogenase deficiency: Pathogenesis, diagnosis, and treatment

INTRODUCTION: Medium‐Chain Acyl‐CoA Dehydrogenase Deficiency (MCADD) is the most common inherited metabolic disorder of β‐oxidation. Patients with MCADD present with hypoketotic hypoglycemia, which may quickly progress to lethargy, coma, and death. Prognosis for MCADD patients is highly promising on...

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Detalles Bibliográficos
Autores principales:	Mason, Emily, Hindmarch, Charles C. T., Dunham‐Snary, Kimberly J.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2022
Materias:	Review Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9836253/ https://www.ncbi.nlm.nih.gov/pubmed/36300606 http://dx.doi.org/10.1002/edm2.385

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