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AB164. Methylmalonic acidemia/propionic acidemia in Taiwan

BACKGROUND: Methylmalonic acidemia (MMA) comprises a heterogeneous group of disorders, which are characterized by accumulation of methylmalonate in the body due to deficiency of methylmalonyl/proprionic coenzyme A mutase or defects in the uptake, transport or synthesis of 5'-deoxyadenosylcobala...

詳細記述

保存先:
書誌詳細
出版年:Ann Transl Med
主要な著者: Chu, Tzu-Hung, Chien, Yin-Hsiu, Lin, Hsiang-Yu, Liao, Hsuan-Chieh, Ho, Huey-Jane, Liu, Chin-Su, Lai, Chih-Jou, Chiang, Chuan-Chi, Yang, Chia-Feng, Hwu, Wuh-Liang, Lin, Shuan-Pei, Niu, Dau-Ming
フォーマット: Artigo
言語:Inglês
出版事項: AME Publishing Company 2015
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC4563541/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3978/j.issn.2305-5839.2015.AB164
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