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Article
A newborn screening pilot study using methylation-sensitive high resolution melting on dried blood spots to detect Prader-Willi and Angelman syndromes
| Date Issued:
2020 | Copyright:
open access
Article
A systematic review and meta-analysis of enzyme replacement therapy in late-onset Pompe disease
| Date Issued:
2021 | Copyright:
open access
Article
Respiratory function during enzyme replacement therapy in late-onset Pompe disease: longitudinal course, prognostic factors, and the impact of time from diagnosis to treatment start
| Date Issued:
2020 | Copyright:
restricted access
Article
Análise estratégica de um centro de genética médica em um instituto de pesquisa nacional em saúde no Brasil: desafios para o SUS
| Date Issued:
2021 | Copyright:
open access