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...

ver descrição completa

Detalhes bibliográficos

Principais autores:	Anar Alfarsi, Majid Alfadhel, Seham Alameer, Amal Alhashem, Brahim Tabarki, Faroug Ababneh, Ahmed Al Fares, Fuad Al Mutairi
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Elsevier 2021-12-01
Colecção:	Molecular Genetics and Metabolism Reports
Assuntos:	Dihydrolipoamide dehydrogenase deficiency Lactic acidosis Hypoglycemia Pyruvate dehydrogenase complex Flavoprotein and E3
Acesso em linha:	http://www.sciencedirect.com/science/article/pii/S2214426921001129
Tags:	Adicionar Tag Sem tags, seja o primeiro a adicionar uma tag!