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...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Veröffentlicht in:Ann Transl Med
Hauptverfasser: 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
Format: Artigo
Sprache:Inglês
Veröffentlicht: AME Publishing Company 2015
Schlagworte:
Part 4: Oral/poster
Online Zugang: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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