Zobrazeno 1 - 6 of 6 pro vyhledávání: '"Ana Paula Pereira Scholz de Magalhães"'
1
Akademický článek
Transferrin isoelectric focusing for the investigation of congenital disorders of glycosylation: analysis of a ten‐year experience in a Brazilian center
Autor: Ana Paula Pereira Scholz de Magalhães, Maira Graeff Burin, Carolina Fischinger Moura de Souza, Fernanda Hendges de Bitencourt, Fernanda Medeiros Sebastião, Thiago Oliveira Silva, Filippo Pinto e Vairo, Ida Vanessa Doederlein Schwartz
Publikováno v: Jornal de Pediatria (Versão em Português), Vol 96, Iss 6, Pp 710-716 (2020)
Objectives: To characterize cases of suspected congenital disorders of glycosylation (CDG) investigated in a laboratory in southern Brazil using the transferrin isoelectric focusing TfIEF test from 2008 to 2017. Method: Observational, cross‐section
Externí odkaz: https://doaj.org/article/ba537b9075d24652868ef0d9b035e274
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2
Akademický článek
Updated birth prevalence and relative frequency of mucopolysaccharidoses across Brazilian regions
Autor: Juliana Alves Josahkian, Franciele Barbosa Trapp, Maira Graeff Burin, Kristiane Michelin-Tirelli, Ana Paula Pereira Scholz de Magalhães, Fernanda Medeiros Sebastião, Fernanda Bender, Jurema Fátima De Mari, Ana Carolina Brusius-Facchin, Sandra Leistner-Segal, Diana Rojas Málaga, Roberto Giugliani
Publikováno v: Genetics and Molecular Biology, Vol 44, Iss 1 (2021)
Abstract The mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders caused by 11 enzyme deficiencies, classified into seven types. Data on the birth prevalence of each MPS type are available for only a few countries, and the totality
Externí odkaz: https://doaj.org/article/c9524199e3bb4d05b8c7a98d09a691e0
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3
Isoeletrofocalização da transferrina para investigação das doenças congênitasda glicosilação: análise de dez anos de experiência de um centro brasileiro
Autor: Filippo Vairo, Ana Paula Pereira Scholz de Magalhães, Ida Vanessa Doederlein Schwartz, Carolina Fischinger Moura de Souza, Fernanda Medeiros Sebastião, Maira Graeff Burin, Thiago Oliveira Silva, Fernanda Hendges de Bitencourt
Publikováno v: Jornal de Pediatria (Versão em Português), Vol 96, Iss 6, Pp 710-716 (2020)
Jornal de Pediatria v.96 n.6 2020
Jornal de Pediatria
Sociedade Brasileira de Pediatria (SBP)
instacron:SBPE
Jornal de Pediatria, Vol 96, Iss 6, Pp 710-716 (2020)
Jornal de Pediatria, Volume: 96, Issue: 6, Pages: 710-716, Published: 14 DEC 2020
Objectives: To characterize cases of suspected congenital disorders of glycosylation (CDG) investigated in a laboratory in southern Brazil using the transferrin isoelectric focusing TfIEF test from 2008 to 2017. Method: Observational, cross-sectional
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0fcde102f7cde0fc24d1fd240156cd09
http://www.sciencedirect.com/science/article/pii/S225555361930196X
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4
Updated birth prevalence and relative frequency of mucopolysaccharidoses across Brazilian regions
Autor: Jurema Fatima de Mari, Fernanda Medeiros Sebastião, Franciele Barbosa Trapp, Maira Graeff Burin, Juliana Alves Josahkian, Ana Paula Pereira Scholz de Magalhães, Diana Rojas Málaga, Ana Carolina Brusius-Facchin, Roberto Giugliani, Kristiane Michelin-Tirelli, Sandra Leistner-Segal, Fernanda Bender
Publikováno v: Genetics and Molecular Biology, Volume: 44, Issue: 1, Article number: e20200138, Published: 27 JAN 2021
Genetics and Molecular Biology v.44 n.1 2021
Genetics and Molecular Biology
Sociedade Brasileira de Genética (SBG)
instacron:SBG
Genetics and Molecular Biology, Vol 44, Iss 1 (2021)
Repositório Institucional da UFRGS
Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGS
The mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders caused by 11 enzyme deficiencies, classified into seven types. Data on the birth prevalence of each MPS type are available for only a few countries, and the totality of cases
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b41b184bd192a2ead93bba9c04579d8
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572021000100103&lng=en&tlng=en
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5
A Case Report on the Challenging Diagnosis of Neuronal Ceroid Lipofuscinosis Type 2 (CLN2)
Autor: Andrea Nunes, Ana Paula Pereira Scholz de Magalhães, Caio Cunha, Emília Katiane Embiruçu de Araújo Leão, Roberto Giugliani, Marielza Veiga, Joanna Goes Castro Meira, Diana Rojas Málaga
Publikováno v: Journal of Inborn Errors of Metabolism and Screening, Volume: 8, Article number: e20200010, Published: 16 DEC 2020
Journal of Inborn Errors of Metabolism and Screening, Vol 8 (2020)
Repositório Institucional da UFRGS
Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGS
Neuronal ceroid lipofuscinoses (NCLs), also referred as “Batten disease”, are a group of thirteen rare genetic conditions, which are part of the lysosomal storage disorders. CLN type 2 (CLN2) is caused by the deficient activity of the tripeptidyl
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d12f8090a76dba042b274122a8bb6068
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942020000100504&lng=en&tlng=en
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6
Investigation of newborns with abnormal results in a newborn screening program for four lysosomal storage diseases in Brazil
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)
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
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