Investigation of newborns with abnormal results in a newborn screening program for four lysosomal storage diseases in Brazil

Lysosomal storage diseases (LSDs) are genetic disorders, clinically heterogeneous, mainly caused by defects in genes encoding lysosomal enzymes that degrade macromolecules. Several LSDs already have specific therapies that may improve clinical outcomes, especially if introduced early in life. With t...

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Bibliografski detalji

Glavni autori:	Heydy Bravo, Eurico Camargo Neto, Jaqueline Schulte, Jamile Pereira, Claudio Sampaio Filho, Fernanda Bittencourt, Fernanda Sebastião, Fernanda Bender, Ana Paula Scholz de Magalhães, Régis Guidobono, Franciele Barbosa Trapp, Kristiane Michelin-Tirelli, Carolina F.M. Souza, Diana Rojas Málaga, Gabriela Pasqualim, Ana Carolina Brusius-Facchin, Roberto Giugliani
Format:	Artigo
Jezik:	Inglês
Izdano:	Elsevier 2017-09-01
Serija:	Molecular Genetics and Metabolism Reports
Teme:	Lysosomal storage diseases Newborn screening Confirmatory diagnosis Carrier Pseudodeficiency Brazil
Online pristup:	http://www.sciencedirect.com/science/article/pii/S2214426917300617
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