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Article

Estimated birth prevalence of mucopolysaccharidoses in Brazil.

American journal of medical genetics. Part A - 1 Mar 2020

Federhen Andressa, Pasqualim Gabriela, de Freitas Talita Freitas, Gonzalez Esteban Alberto, Trapp Franciele, Matte Ursula, Giugliani Roberto

Abstract excerpt

Several studies have been published on the frequency of the mucopolysaccharidoses (MPS) in different countries. The objective of the present study was to estimate the birth prevalence (BP) of MPS in Brazil. MPS diagnosis registered at MPS-Brazil Network and in Instituto Vidas Raras were reviewed. BP was estimated by (a) the number of registered patients born between 1994 and 2015 was divided by the number of live...

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PMID: 31926052
DOI: 10.1002/ajmg.a.61456

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