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Updated birth prevalence and relative frequency of mucopolysaccharidoses across Brazilian regions

The mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders caused by 11 enzyme deficiencies, classified into seven types. Data on the birth prevalence of each MPS type are available for only a few countries, and the totality of cases may be underestimated. To determine the epidemiolo...

詳細記述

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書誌詳細
出版年:Genet Mol Biol
主要な著者: Josahkian, Juliana Alves, Trapp, Franciele Barbosa, Burin, Maira Graeff, Michelin-Tirelli, Kristiane, de Magalhães, Ana Paula Pereira Scholz, Sebastião, Fernanda Medeiros, Bender, Fernanda, Mari, Jurema Fátima De, Brusius-Facchin, Ana Carolina, Leistner-Segal, Sandra, Málaga, Diana Rojas, Giugliani, Roberto
フォーマット: Artigo
言語:Inglês
出版事項: Sociedade Brasileira de Genética 2021
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC7839630/
https://ncbi.nlm.nih.gov/pubmed/33503199
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1590/1678-4685-GMB-2020-0138
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