|Title:||Methylmalonic acidemia/propionic acidemia - the biochemical presentation and comparing the outcome between liver transplantation versus non-liver transplantation groups||Authors:||Chu, Tzu-Hung
|Keywords:||Liver transplantation; Methylmalonic acidemia; Newborn screening; Propionic acidemia||Issue Date:||2019||Publisher:||BMC||Journal Volume:||14||Journal Issue:||1||Source:||Orphanet journal of rare diseases||Abstract:||
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 Taiwan from January, 2000 and data was collected until December, 2016.
|Appears in Collections:||醫學系|
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