Pyruvate dehydrogenase E1α deficiency in a family : Different clinical presentation in two siblings

The pyruvate dehydrogenase (PDH) complex (PDHc) is responsible for the irreversible conversion of pyruvate to acetyl-CoA. PDHc is a multienzyme complex consisting of three catalytic subunits, pyruvate decarboxylase (E1), dihydrolipoamideacetyltransferase (E2), dihydrolipoamide dehydrogenase (E3), an...

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Detalles Bibliográficos
Autores principales:	De Meirleir, L., Spècola, Norma, Seneca, Sara, Lissens, Willy
Formato:	Articulo
Lenguaje:	Inglés
Publicado:	1998
Materias:	Ciencias Médicas pyruvate dehydrogenase complex gene mutation
Acceso en línea:	http://sedici.unlp.edu.ar/handle/10915/132731
Aporte de:	SEDICI (UNLP) de Universidad Nacional de La Plata

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