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Spectrum of genetic variants associated with maple syrup urine disease in the Middle East, North Africa, and Türkiye (MENAT): a systematic review

Abstract Background Maple syrup urine disease (MSUD) is a hereditary metabolic disorder caused by a deficiency in the branched-chain α-keto acid dehydrogenase (BCKD) enzymatic complex. The Middle East and North Africa, and Türkiye (MENAT) region has witnessed a significant rise in the prevalence of...

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Principais autores: Salma Younes, Razan Elkahlout, Houda Kilani, Sarah Okashah, Hussain Al Sharshani, Zoulikha Rezoug, Hatem Zayed, Nader Al-Dewik
Format: Artigo
Sprog:Inglês
Udgivet: BMC 2025-03-01
Serier:BMC Medical Genomics
Fag:
Maple syrup urine disease (MSUD)
Genetic variants
Genotype-phenotype correlations
MENA
Online adgang:https://doi.org/10.1186/s12920-025-02083-x
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