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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Detalles Bibliográficos
Autores principales: Alfarsi, Anar, Alfadhel, Majid, Alameer, Seham, Alhashem, Amal, Tabarki, Brahim, Ababneh, Faroug, Al Fares, Ahmed, Al Mutairi, Fuad
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8554626/
https://www.ncbi.nlm.nih.gov/pubmed/34745891
http://dx.doi.org/10.1016/j.ymgmr.2021.100817

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