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 Congenital Infectious Diseases

Autor: Eurico Camargo Neto, Rosélia Rubin, Jaqueline Schulte, Roberto Giugliani

Publikováno v: Emerging Infectious Diseases, Vol 10, Iss 6, Pp 1069-1073 (2004)

To estimate the prevalence of congenital toxoplasmosis, Chagas disease, cytomegalovirus, and rubella, blood samples on dried blood spot (DBS) from neonates (day 3–20 of life) were screened for immunoglobulin (Ig) M against Toxoplasma gondii, cytome

Externí odkaz: https://doaj.org/article/d26418efb8b64316996ed9629f28c480

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

Investigation of newborns screened in a pilot program for four lysosomal diseases in Brazil

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

Rapid and Automated Assay for Thyrotropin in Guthrie Cards on the ACS:180

Autor: Jaqueline Schulte, Eurico Camargo Neto

Publikováno v: Clinical Chemistry. 44:2372-2373

Congenital hypothyroidism causes a decreased growth rate and skeletal development and can lead to severe mental retardation (1). In the nearly three decades since measurement of thyroxine in filter paper dried blood disks (Guthrie cards) was introduc

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::04a55f51b77382f15caaa0698e43a46f
https://doi.org/10.1093/clinchem/44.11.2372