Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Claudio Sampaio-Filho"'
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
Autor:
Eurico Camargo Neto, Jaqueline Schulte, Jamile Pereira, Heydy Bravo, Claudio Sampaio-Filho, Roberto Giugliani
Publikováno v:
Genetics and Molecular Biology, Iss 0 (2018)
Abstract 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 diagnos
Externí odkaz:
https://doaj.org/article/0beabbf544b647ca91b1aa99311dbb22
Autor:
Fernanda Machado Bittencourt, Jaqueline Schulte, Kristiane Michelin-Tirelli, Carolina Fischinger Moura de Souza, Eurico Camargo Neto, Franciele Barbosa Trapp, Jamile Pereira, Roberto Giugliani, Gabriela Pasqualim, Ana Paula Pereira Scholz de Magalhães, Ana Carolina Brusius-Facchin, Diana Rojas Málaga, Heydy Bravo, Fernanda Bender, Claudio Sampaio Filho, Regis Rolim Guidobono, Fernanda Medeiros Sebastião
Publikováno v:
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 12, Iss C, Pp 92-97 (2017)
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://explore.openaire.eu/search/publication?articleId=doi_dedup___::40cb2275ee9485bbf89e89de7ce29a7a
https://doi.org/10.1016/j.ymgmr.2017.06.006
https://doi.org/10.1016/j.ymgmr.2017.06.006
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
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
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572018000300414
Autor:
Diana Rojas Málaga, Ana Carolina Brusius-Facchin, Jamile Pereira, Roberto Giugliani, Kristiane Michelin-Tirelli, Claudio Sampaio Filho, Jaqueline Schulte, Eurico Camargo Neto, Têmis M. Félix
Publikováno v:
Genetics and Molecular Research. 16
When a low activity of acid α-glucosidase (GAA) is found, particularly in newborn screening programs, to differentiate α-glucosidase pseudo deficiency from true Pompe disease is important and urgent, as the result generates parental stress and also
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e729b28f54fa9277d03f1e91398157b2
https://doi.org/10.4238/gmr16039844
https://doi.org/10.4238/gmr16039844
Autor:
Regis Rolim Guidobono, Jamile Pereira, Diana E Rojas-Málaga, Ursula da Silveira Matte, Fernanda Hendges de Bitencourt, Maira Graeff Burin, Roberto Giugliani, Heydy V Bravo-Villalta, Ana Carolina Brusius-Facchin, Gabriela Pasqualim, Fernanda Medeiros Sebastião, Jaqueline Schulte, Eurico Camargo Neto, Claudio Sampaio-Filho
Publikováno v:
Molecular Genetics and Metabolism. 120:S31
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::888f80b354dcaf7b7290997a4fc76230
https://doi.org/10.1016/j.ymgme.2016.11.051
https://doi.org/10.1016/j.ymgme.2016.11.051