The phenotypic spectrum of dihydrolipoamide dehydrogenase deficiency in Saudi Arabia

Background: Dihydrolipoamide dehydrogenase deficiency (DLDD) is a rare metabolic disorder inherited in an autosomal recessive manner. This heterogeneous disease has a variable clinical presentation, onset, and biochemical markers. Materials and methods: We retrospectively reviewed the clinical and m...

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Autors principals:	Anar Alfarsi, Majid Alfadhel, Seham Alameer, Amal Alhashem, Brahim Tabarki, Faroug Ababneh, Ahmed Al Fares, Fuad Al Mutairi
Format:	Artigo
Idioma:	Inglês
Publicat:	Elsevier 2021-12-01
Col·lecció:	Molecular Genetics and Metabolism Reports
Matèries:	Dihydrolipoamide dehydrogenase deficiency Lactic acidosis Hypoglycemia Pyruvate dehydrogenase complex Flavoprotein and E3
Accés en línia:	http://www.sciencedirect.com/science/article/pii/S2214426921001129
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