Spectrum of Mutations in 60 Saudi Patients with Mut Methylmalonic Acidemia

Defects in the human gene encoding methylmalonyl-CoA mutase enzyme (MCM) give rise to a rare autosomal recessive inherited disorder of propionate metabolism termed mut methylmalonic acidemia (MMA). Patients with mut MMA have been divided into two subgroups: mut(0) with complete loss of MCM activity...

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書誌詳細
出版年:JIMD Rep
主要な著者: Imtiaz, Faiqa, Al-Mubarak, Bashayer M., Al-Mostafa, Abeer, Al-Hamed, Mohamed, Allam, Rabab, Al-Hassnan, Zuhair, Al-Owain, Mohammed, Al-Zaidan, Hamad, Rahbeeni, Zuhair, Qari, Alya, Faqeih, Eissa Ali, Alasmari, Ali, Al-Mutairi, Fuad, Alfadhel, Majid, Eyaid, Wafaa M., Rashed, Mohamed S., Al-Sayed, Moeenaldeen
フォーマット: Artigo
言語:Inglês
出版事項: Springer Berlin Heidelberg 2015
主題:
Article
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC5059185/
https://ncbi.nlm.nih.gov/pubmed/26615597
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2014_297
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