AB028. Very early treatment for infantile-onset Pompe disease contributes to better outcomes: 10-year experience in one institute

BACKGROUND: To evaluate the outcomes of very early treatment in our patients and compare these data with other infantile-onset Pompe disease (IOPD) cohort studies. METHODS: In this nationwide program, one million newborns were screened for Pompe disease. We diagnosed IOPD in 21 of these newborns, an...

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Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Ann Transl Med
Egile Nagusiak: Yang, Chia-Feng, Chu, Tzu-Hung, Huang, Ling-Yi, Liao, Hsuan-Chieh, Soong, Wen-Jue, Niu, Dau-Ming
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: AME Publishing Company 2017
Gaiak:
Newborn Screening, Inborn Errors of Metabolism
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC5641697/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.21037/atm.2017.s028
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