Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Walquiria Domingues de Mello"'
Autor:
Jaime Moritz Brum, Isabela Maria Pinto de Oliveira Rizzo, Walquiria Domingues de Mello, Carlos Eduardo Speck-Martins
Publikováno v:
Arquivos de Neuro-Psiquiatria, Vol 66, Iss 3a, Pp 545-548 (2008)
Externí odkaz:
https://doaj.org/article/94d2f95477714d62b0f1a2f77bba8546
Autor:
Nurulamin Abu Bakar, Angel Ashikov, Jaime Moritz Brum, Roel Smeets, Marjan Kersten, Karin Huijben, Wee Teik Keng, Carlos Eduardo Speck‐Martins, Daniel Rocha de Carvalho, Isabela Maria Pinto Oliveira de Rizzo, Walquiria Domingues de Mello, Rebecca Heiner‐Fokkema, Kathleen Gorman, Stephanie Grunewald, Helen Michelakakis, Marina Moraitou, Diego Martinelli, Monique van Scherpenzeel, Mirian Janssen, Lonneke de Boer, Lambertus P. van den Heuvel, Christian Thiel, Dirk J. Lefeber
Publikováno v:
Journal of Inherited Metabolic Disease, 45, 769-781
Journal of Inherited Metabolic Disease, 45, 4, pp. 769-781
Journal of Inherited Metabolic Disease, 45(4), 769-781. SPRINGER
Journal of Inherited Metabolic Disease, 45, 4, pp. 769-781
Journal of Inherited Metabolic Disease, 45(4), 769-781. SPRINGER
Contains fulltext : 282651.pdf (Publisher’s version ) (Open Access) Congenital disorders of glycosylation type 1 (CDG-I) comprise a group of 27 genetic defects with heterogeneous multisystem phenotype, mostly presenting with nonspecific neurologica
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aad8887e9519c62164677392015f41c6
https://research.rug.nl/en/publications/43f9fccd-de47-43af-8cd8-aaa035ab7848
https://research.rug.nl/en/publications/43f9fccd-de47-43af-8cd8-aaa035ab7848
Autor:
Carlos E. Speck-Martins, Luciano Farage, Daniel R. Carvalho, Anna L. Soares, Christiana Brenner, Isabela M. P. O. Rizzo, Ana Luiza Villa a Coelho, Nilza do Carmo Fontes, Jaime M. Brum, Walquiria Domingues de Mello, Mônica M. M. Navarro
Publikováno v:
Pediatrics & Therapeutics.
Introduction: Congenital Disorders of Glycosylation are a group of genetic disorders due to abnormal glycosylation of glycoproteins and glycolipids. Based on isoelectric focusing of plasma transferrin results, CDG are classified in two groups: CDG-I
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8db42d498a2ad5337b5bcb0aca6dff99
https://doi.org/10.4172/2161-0665.s3-001
https://doi.org/10.4172/2161-0665.s3-001
Autor:
Jaime M. Brum, Mônica M. M. Navarro, Anna L. Soares, Isabela M. P. O. Rizzo, Caio A. Mendonça, Walquiria Domingues de Mello, Maria Tereza I. Pinto, Carlos Eduardo Speck Martins
Publikováno v:
Revista Brasileira de Hematologia e Hemoterapia v.32 n.2 2010
Revista brasileira de hematologia e hemoterapia
Associação Brasileira de Hematologia e Hemoterapia e Terapia Celular (ABHHTC)
instacron:ABHHTC
Revista Brasileira de Hematologia e Hemoterapia, Volume: 32, Issue: 2, Pages: 131-135, Published: 30 APR 2010
Revista brasileira de hematologia e hemoterapia
Associação Brasileira de Hematologia e Hemoterapia e Terapia Celular (ABHHTC)
instacron:ABHHTC
Revista Brasileira de Hematologia e Hemoterapia, Volume: 32, Issue: 2, Pages: 131-135, Published: 30 APR 2010
Defeitos na incorporação de N-glicanos nas proteínas humanas ocasionam um grupo de doenças multissistêmicas denominadas coletivamente distúrbios congênitos de glicosilação (DCG). Os DCG manifestam-se na infância com sintomas neurológicos q
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5702a005966bcdd62653eeec4b7bb90c
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1516-84842010000200012
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1516-84842010000200012
Publikováno v:
Arquivos de neuro-psiquiatria. 66(3A)
Congenital disorders of glycosylation (CDG) are a group of severe, autosomal recessive, multisystemic diseases, characterized by abnormal glycosylation of glycoproteins and glycolipids1. The first disease of this group was reported in 19802. Since th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb2d945649833a63645f451d58e4312a
https://pubmed.ncbi.nlm.nih.gov/18813717
https://pubmed.ncbi.nlm.nih.gov/18813717