Methylmalonic acidemia/propionic acidemia – the biochemical presentation and comparing the outcome between liver transplantation versus non-liver transplantation groups

BACKGROUND: Most patients with isolated methylmalonic acidemia (MMA) /propionic acidemia (PA) presenting during the neonatal period with acute metabolic distress are at risk for death and significant neurodevelopmental disability. The nationwide newborn screening for MMA/PA has been in place in Taiw...

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Detalhes bibliográficos
Publicado no:Orphanet J Rare Dis
Main Authors: Chu, Tzu-Hung, Chien, Yin-Hsiu, Lin, Hsiang-Yu, Liao, Hsuan-Chieh, Ho, Huey-Jane, Lai, Chih-Jou, Chiang, Chuan-Chi, Lin, Niang-Cheng, Yang, Chia-Feng, Hwu, Wuh-Liang, Lee, Ni-Chung, Lin, Shuan-Pei, Liu, Chin-Su, Hu, Rey-Heng, Ho, Ming-Chih, Niu, Dau-Ming
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2019
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6444613/
https://ncbi.nlm.nih.gov/pubmed/30940196
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-019-1045-1
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