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Akademický článek

Investigação de erros inatos do metabolismo

Autor: Moacir Wajner, Carmen R. Vargas, Maira Burin, Roberto Giugliani, Janice C. Coelho

Publikováno v: Clinical and Biomedical Research, Vol 21, Iss 3 (2022)

Os erros inatos do metabolismo são doenças metabólicas hereditárias individualmente raras, mas que em seu conjunto apresentam uma incidência aproximada de pelo menos 1 caso para cada mil nascimentos. O presente trabalho teve por objetivos descre

Externí odkaz: https://doaj.org/article/252159659bb3421b85e407e5d0fd3a3b

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Akademický článek

COVID-19 impact on the diagnosis of Inborn Errors of Metabolism: Data from a reference center in Brazil

Autor: Fernanda Medeiros Sebastião, Kristiane Michelin-Tirelli, Fernanda Bender, Franciele Fátima Lopes, Inamara Moraes, Francyne Kubaski, Roberto Giugliani, Maira Burin

Publikováno v: Genetics and Molecular Biology, Vol 45, Iss 1 (2021)

Abstract The COVID-19 pandemic led to the reorganization of health care in several countries, including Brazil. Inborn Errors of Metabolism (IEM) are a group of rare and difficult to diagnose genetic diseases caused by pathogenic variants in genes th

Externí odkaz: https://doaj.org/article/665ffbb72da64833b33fb1f99a7fb7fb

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Akademický článek

FABRY DISEASE: DIAGNOSIS OF A RARE DISORDER

Autor: Cristina Netto, Maira Burin, Laura Jardim, Marilyn Tsao, Fernanda Pereira, Ursula Matte, Roberto Giugliani, Elvino Barros, Daiana Porsch, Vagner Milani, Liana Rossato, Ane Nunes

Publikováno v: Clinical and Biomedical Research, Vol 26, Iss 3 (2020)

Fabry disease (FD) is an X-linked inborn error of glycosphingolipid metabolism due to the deficiency of α-galactosidase A. The progressive accumulation of globotriaosylceramide (Gb3), particularly in the vascular endothelium, leads to renal, cardiac

Externí odkaz: https://doaj.org/article/0a211f3f60a641fe933d9eaaf7a90c17

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Akademický článek

Relative frequency and estimated minimal frequency of Lysosomal Storage Diseases in Brazil: Report from a Reference Laboratory

Autor: Roberto Giugliani, Andressa Federhen, Kristiane Michelin-Tirelli, Mariluce Riegel, Maira Burin

Publikováno v: Genetics and Molecular Biology, Vol 40, Iss 1, Pp 31-39 (2017)

Abstract Lysosomal storage diseases (LSDs) comprise a heterogeneous group of more than 50 genetic conditions of inborn errors of metabolism (IEM) caused by a defect in lysosomal function. Although there are screening tests for some of these condition

Externí odkaz: https://doaj.org/article/7126ad6f4f3a4e189aaf98e00dbfe4a2

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Akademický článek

Population medical genetics: translating science to the community

Publikováno v: Genetics and Molecular Biology, Iss 0 (2019)

Abstract Rare genetic disorders are currently in the spotlight due to the elevated number of different conditions and significant total number of affected patients. The study of these disorders is extremely helpful for the elucidation of physiologica

Externí odkaz: https://doaj.org/article/3b9cfc2431bf4168914bb31ecb58b269

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Akademický článek

Lysosomal diseases: Overview on current diagnosis and treatment

Autor: Fabiano de Oliveira Poswar, Filippo Vairo, Maira Burin, Kristiane Michelin-Tirelli, Ana Carolina Brusius-Facchin, Francyne Kubaski, Carolina Fischinger Moura de Souza, Guilherme Baldo, Roberto Giugliani

Publikováno v: Genetics and Molecular Biology, Iss 0 (2019)

Abstract Lysosomal diseases (LDs), also known as lysosomal storage diseases (LSDs), are a heterogeneous group of conditions caused by defects in lysosomal function. LDs may result from deficiency of lysosomal hydrolases, membrane-associated transport

Externí odkaz: https://doaj.org/article/e7d7cf60f08f45fda02effa15361c07d

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Akademický článek

A patient presenting a 22q13 deletion associated with an apparently balanced translocation t(16;22): an illustrative case in the investigation of patients with low ARSA activity

Autor: Osvaldo Artigalás, Giorgio Paskulin, Mariluce Riegel, Maira Burin, Maria Luiza Saraiva-Pereira, Sharbel Maluf, Andrea Kiss, Ida Vanessa D. Schwartz

Publikováno v: Genetics and Molecular Biology, Vol 35, Iss 2, Pp 424-427 (2012)

A 10-year-old speechless, mentally deficient male, with low arylsulfatase A (ARSA) activity, and presumably, methachromatic leukodystrophy, underwent genetic evaluation. As the clinical picture was not compatible with this diagnosisan ARSA gene and c

Externí odkaz: https://doaj.org/article/227c1a8ecd614055a8c358884db35929

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Akademický článek

Fast and robust protocol for prenatal diagnosis of mucopolysaccharidosis type II

Autor: Sandra Leistner-Segal, Ana Carolina Brusius-Facchin, Rejane Gus, Maira Burin, Maria Teresa Sanseverino, José Antônio Magalhães, Roberto Giugliani

Publikováno v: Clinical and Biomedical Research, Vol 34, Iss 4 (2014)

Introduction: Mucopolysaccharidosis type II (MPSII) is an X-linked lysosomal disorder caused by deficiency of iduronate-2-sulfatase (IDS). In this study, we proposed a new protocol for prenatal diagnosis, using DNA obtained from amniotic fluid cells

Externí odkaz: https://doaj.org/article/338d7fcfbc6542e59e99b67e4181bc90

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Multiplex testing for the screening of lysosomal storage disease in urine: Sulfatides and glycosaminoglycan profiles in 40 cases of sulfatiduria

Autor: Dietrich Matern, Kimiyo Raymond, Kim K. Nickander, Devin Oglesbee, Piero Rinaldo, Jean M. Lacey, April Studinski, Silvia Tortorelli, Amy M White, Maira Burin, Gisele Pino, Erin Conboy, Sara Minnich, Roberto Giugliani, Dimitar Gavrilov, Dawn Peck

Publikováno v: Molecular Genetics and Metabolism. 129:106-110

Purpose To describe an efficient and effective multiplex screening strategy for sulfatide degradation disorders and mucolipidosis type II/III (MLII/III) using 3 mL of urine. Methods Glycosaminoglycans were analyzed by liquid chromatography-tandem mas

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::650af8ffc8e2fde22df2495f60bf668e
https://doi.org/10.1016/j.ymgme.2019.10.009

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Lysosomal diseases: Overview on current diagnosis and treatment

Autor: Carolina Fischinger Moura de Souza, Filippo Vairo, Fabiano de Oliveira Poswar, Roberto Giugliani, Guilherme Baldo, Ana Carolina Brusius-Facchin, Maira Burin, Kristiane Michelin-Tirelli, Francyne Kubaski

Publikováno v: Genetics and Molecular Biology, Iss 0 (2019)
Genetics and Molecular Biology, Volume: 42, Issue: 1 Supplement 1, Pages: 165-177, Published: 25 APR 2019
Genetics and Molecular Biology v.42 n.1 suppl.1 2019
Genetics and Molecular Biology
Sociedade Brasileira de Genética (SBG)
instacron:SBG
Repositório Institucional da UFRGS
Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGS

Lysosomal diseases (LDs), also known as lysosomal storage diseases (LSDs), are a heterogeneous group of conditions caused by defects in lysosomal function. LDs may result from deficiency of lysosomal hydrolases, membrane-associated transporters or ot

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2beef8afaab56401802c8b98d5751e83
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019005019403&lng=en&tlng=en

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