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

Autor: 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

Publikováno v: Molecular Genetics and Metabolism Reports, Vol 12, Iss C, Pp 92-97 (2017)

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 outcom

Externí odkaz: https://doaj.org/article/a2fe1b980788428984281a4eabc80911

Newborn screening for lysosomal disorders in Brazil: A pilot study using customized fluorimetric assays

Autor: Fernanda Hendges de Bitencourt, Fernanda da Silva Medeiros, Fernanda Bender, Maira Graeff Burin, Antoine Daher, José Francisco Da Silva Franco, Francyne Kubaski, Kristiane Michelin Tirelli, Heydy Bravo, Gabriel Civallero, Roberto Giugliani, Vanessa Carnier

Publikováno v: Genetics and Molecular Biology
Genetics and Molecular Biology v.43 n.2 2020
Sociedade Brasileira de Genética (SBG)
instacron:SBG

Lysosomal storage disorders (LSDs) are a group of genetic disorders characterized by deficiency of specific lysosomal enzymes. In general, patients are clinically normal at birth, and progressively develop severe signs and symptoms. Diagnosis is usua

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::07eac2e35f2d13026a75ed93d3993233
https://doi.org/10.1590/1678-4685-gmb-2018-0334

Neonatal screening for four lysosomal storage diseases with a digital microfluidics platform: Initial results in Brazil

Autor: Jamile Pereira, Heydy Bravo, Claudio Sampaio-Filho, Roberto Giugliani, Jaqueline Schulte, Eurico Camargo Neto

Publikováno v: Genetics and Molecular Biology v.41 n.2 2018
Genetics and Molecular Biology
Sociedade Brasileira de Genética (SBG)
instacron:SBG
Genetics and Molecular Biology, Iss 0 (2018)
Genetics and Molecular Biology, Volume: 41, Issue: 2, Pages: 414-416, Published: 04 JUN 2018
Genetics and Molecular Biology, Issue: ahead, Published: 04 JUN 2018

We describe the initial results of a neonatal screening program for four lysosomal storage diseases (MPS I, Pompe, Gaucher and Fabry) using the digital microfluidics methodology. The method successfully identified patients previously diagnosed with t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::88d0da7ac814f2355d546f170746d90c
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572018000300414