Zobrazeno 1 - 3
of 3
pro vyhledávání: '"María Beatriz Bistué Millón"'
Autor:
C. G. Asteggiano, María Fernanda Peralta, Nydia Beatriz Azar, Niels Suldrup Suldrup, María Beatriz Bistué Millón, Raquel Dodelson de Kremer, Norberto Guelbert, Marcela Pereyra, N. Specola, Magali Papazoglu
Publikováno v:
Pediatric Research. 84:837-841
Congenital Disorders of Glycosylation (CDG) are genetic diseases caused by hypoglycosylation of glycoproteins and glycolipids. Most CDG are multisystem disorders with mild to severe involvement. We studied 554 patients (2007–2017) with a clinical p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83d91eaaf70272aed5de2421c85350ad
https://doi.org/10.1038/s41390-018-0206-6
https://doi.org/10.1038/s41390-018-0206-6
Autor:
Haluk Topaloglu, Dulce Quelhas, Esmeralda Martins, Gert Matthijs, Luisa Sturiale, C. G. Asteggiano, Domenico Garozzo, Peter E. Clayton, Jaak Jaeken, François Foulquier, Philippa B. Mills, Miguel Gonçalves-Rocha, Daisy Rymen, María Beatriz Bistué Millón, Romain Péanne, Valerie Race, Marie-Cécile Nassogne, Ali Cansu
Publikováno v:
PLoS Genetics
PLOS genetics (Online) 9 (2013): e1003989. doi:10.1371/journal.pgen.1003989
info:cnr-pdr/source/autori:Daisy Rymen, Romain Peanne, María B Millón, Valérie Race, Luisa Sturiale, Domenico Garozzo, Philippa Mills, Peter Clayton, Carla G Asteggiano, Dulce Quelhas, Ali Cansu, Esmeralda Martins, Marie-Cécile Nassogne, Miguel Gonçalves-Rocha, Haluk Topaloglu, Jaak Jaeken, François Foulquier, Gert Matthijs/titolo:MAN1B1 Deficiency: An Unexpected CDG-II/doi:10.1371%2Fjournal.pgen.1003989/rivista:PLOS genetics (Online)/anno:2013/pagina_da:e1003989/pagina_a:/intervallo_pagine:e1003989/volume:9
PLoS Genetics, Public Library of Science, 2013, 9 (12), pp.e1003989. ⟨10.1371/journal.pgen.1003989⟩
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET
PLoS Genetics, Vol. 9, no.12, p. e1003989 (2013)
PLoS Genetics, Vol 9, Iss 12, p e1003989 (2013)
PLoS Genetics, 2013, 9 (12), pp.e1003989. ⟨10.1371/journal.pgen.1003989⟩
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP
PLOS genetics (Online) 9 (2013): e1003989. doi:10.1371/journal.pgen.1003989
info:cnr-pdr/source/autori:Daisy Rymen, Romain Peanne, María B Millón, Valérie Race, Luisa Sturiale, Domenico Garozzo, Philippa Mills, Peter Clayton, Carla G Asteggiano, Dulce Quelhas, Ali Cansu, Esmeralda Martins, Marie-Cécile Nassogne, Miguel Gonçalves-Rocha, Haluk Topaloglu, Jaak Jaeken, François Foulquier, Gert Matthijs/titolo:MAN1B1 Deficiency: An Unexpected CDG-II/doi:10.1371%2Fjournal.pgen.1003989/rivista:PLOS genetics (Online)/anno:2013/pagina_da:e1003989/pagina_a:/intervallo_pagine:e1003989/volume:9
PLoS Genetics, Public Library of Science, 2013, 9 (12), pp.e1003989. ⟨10.1371/journal.pgen.1003989⟩
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET
PLoS Genetics, Vol. 9, no.12, p. e1003989 (2013)
PLoS Genetics, Vol 9, Iss 12, p e1003989 (2013)
PLoS Genetics, 2013, 9 (12), pp.e1003989. ⟨10.1371/journal.pgen.1003989⟩
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP
Congenital disorders of glycosylation (CDG) are a group of rare metabolic diseases, due to impaired protein and lipid glycosylation. In the present study, exome sequencing was used to identify MAN1B1 as the culprit gene in an unsolved CDG-II patient.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::312482d2799faf78ebbebb8896662177
http://europepmc.org/articles/PMC3861123
http://europepmc.org/articles/PMC3861123
Approaches to homozygosity mapping and exome sequencing for the identification of novel types of CDG
In the past decade, the identification of most genes involved in Congenital Disorders of Glycosylation (CDG) (type I) was achieved by a combination of biochemical, cell biological and glycobiological investigations. This has been truly successful for
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e2a0ac3b16de16daf8e1d7a03e914822
https://link.springer.com/article/10.1007/s10719-012-9445-7
https://link.springer.com/article/10.1007/s10719-012-9445-7
