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Newborn screening for dihydrolipoamide dehydrogenase deficiency: Citrulline as a useful analyte

Dihydrolipoamide dehydrogenase deficiency, also known as maple syrup urine disease (MSUD) type III, is caused by the deficiency of the E3 subunit of branched chain alpha-ketoacid dehydrogenase (BCKDH), α-ketoglutarate dehydrogenase (αKGDH), and pyruvate dehydrogenase (PDH). DLD deficiency variably p...

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Detalles Bibliográficos
Autores principales:	Quinonez, Shane C., Seeley, Andrea H., Seeterlin, Mary, Stanley, Eleanor, Ahmad, Ayesha
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Elsevier 2014
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5121342/ https://www.ncbi.nlm.nih.gov/pubmed/27896107 http://dx.doi.org/10.1016/j.ymgmr.2014.07.007

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