Twenty novel mutations in BCKDHA, BCKDHB and DBT genes in a cohort of 52 Saudi Arabian patients with maple syrup urine disease

Maple syrup urine disease (MSUD), an autosomal recessive inborn error of metabolism due to defects in the branched-chain α-ketoacid dehydrogenase (BCKD) complex, is commonly observed among other inherited metabolic disorders in the kingdom of Saudi Arabia. This report presents the results of mutatio...

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Dettagli Bibliografici
Pubblicato in:Mol Genet Metab Rep
Autori principali: Imtiaz, Faiqa, Al-Mostafa, Abeer, Allam, Rabab, Ramzan, Khushnooda, Al-Tassan, Nada, Tahir, Asma I., Al-Numair, Nouf S., Al-Hamed, Mohamed H., Al-Hassnan, Zuhair, Al-Owain, Mohammad, Al-Zaidan, Hamad, Al-Amoudi, Mohammad, Qari, Alya, Balobaid, Ameera, Al-Sayed, Moeenaldeen
Natura: Artigo
Lingua:Inglês
Pubblicazione: Elsevier 2017
Soggetti:
Research Paper
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5388912/
https://ncbi.nlm.nih.gov/pubmed/28417071
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2017.03.006
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