Zobrazeno 1 - 10
of 22
pro vyhledávání: '"HDE MTB"'
Autor:
Ana Catarina Alves, Beatriz Miranda, Oana Moldovan, Raquel Espírito Santo, Raquel Gouveia Silva, Sandra Soares Cardoso, Luísa Diogo, Mónica Seidi, Silvia Sequeira, Mafalda Bourbon
Background: Dyslipidaemia represents a group of disorders of lipid metabolism, characterized by either an increase or decrease in lipid particles, usually associated with triglycerides, LDL cholesterol (LDL-C) and/or HDL cholesterol (HDL-C). Most hyp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f3cac89684e5d15f1196ea1e9d5a5b0
https://hdl.handle.net/10400.17/4601
https://hdl.handle.net/10400.17/4601
Autor:
Ana Maria Fortuna, Isaura Ribeiro, Gert Matthijs, Francisco Ferraz Laranjeira, Jaak Jaeken, Dulce Quelhas, Luísa Azevedo, Ana Medeira, Helena Cabral Fernandes, Ana C. Ferreira, Sílvia Sequeira, A.F. Oliveira, Paula Garcia, Carla Mendonça, Valerie Race, Liesbeth Keldermans, Anabela Bandeira, Elisa Leão Teles, Esmeralda Rodrigues, Erica Souche, Patrícia Janeiro, Ana Maria Minarelli Gaspar, Luísa Diogo, Esmeralda Martins
Publikováno v:
The Journal of Pediatrics. 231:148-156
OBJECTIVE: To describe the clinical, biochemical, and genetic features of both new and previously reported patients with congenital disorders of glycosylation (CDGs) diagnosed in Portugal over the last 20 years. STUDY DESIGN: The cohort includes pati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ef67a3c026723b5172eea4bf5b70bb75
https://doi.org/10.1016/j.jpeds.2020.12.026
https://doi.org/10.1016/j.jpeds.2020.12.026
Autor:
Isabel Tavares de Almeida, A.F. Oliveira, Patrícia Janeiro, Cristina Florindo, Sílvia Sequeira, João B. Vicente, Ana Luísa Rodrigues, Hana Pavlu-Pereira, Maria João Silva, R. A. T. Gomes, Isabel Rivera, Ana Cristina Ferreira, Sofia Duarte, Anabela Bandeira, Esmeralda Martins, Daniel Gonçalves Gomes, Sérgia Soares
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-14 (2020)
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases
Background The pyruvate dehydrogenase complex (PDC) catalyzes the irreversible decarboxylation of pyruvate into acetyl-CoA. PDC deficiency can be caused by alterations in any of the genes encoding its several subunits. The resulting phenotype, though
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fe25ed0d30249c796e02cedf7bcd1a24
http://link.springer.com/article/10.1186/s13023-020-01586-3
http://link.springer.com/article/10.1186/s13023-020-01586-3
Autor:
María E. Vázquez-Mosquera, Emiliano González-Vioque, Francisco Ferraz Laranjeira, Alejandro Avila-Alvarez, Ana C. Ferreira, Roi Chans, José V. Álvarez, Esmeralda Martins, Sofia Barbosa-Gouveia, María L. Couce
Publikováno v:
Genes
Volume 12
Issue 8
Genes, Vol 12, Iss 1262, p 1262 (2021)
Volume 12
Issue 8
Genes, Vol 12, Iss 1262, p 1262 (2021)
Next-generation sequencing (NGS) technologies have been proposed as a first-line test for the diagnosis of inborn errors of metabolism (IEM), a group of genetically heterogeneous disorders with overlapping or nonspecific phenotypes. Over a 3-year per
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::982136112d6053577ee49c59125ba026
Autor:
Francisco Silva, Sónia Ramos, Helena Fonseca, Luísa Azevedo, Filipa Ferreira, Raquel Neiva, Carmen Sousa, Ana Marcão, Laura Vilarinho, Paula Garcia, Patrícia Janeiro, Sílvia Sequeira, Esmeralda Martins, António Amorim, Esmeralda Rodrigues, Luísa Diogo, Anabela Bandeira, Hugo Rocha, Ana C. Ferreira, Ana Maria Minarelli Gaspar, Teresa Campos, Célia Carmona, Luísa C. Rodrigues
Publikováno v:
Molecular Genetics & Genomic Medicine
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP
Molecular Genetics & Genomic Medicine, Vol 9, Iss 3, Pp n/a-n/a (2021)
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP
Molecular Genetics & Genomic Medicine, Vol 9, Iss 3, Pp n/a-n/a (2021)
Background The impairment of the hepatic enzyme phenylalanine hydroxylase (PAH) causes elevation of phenylalanine levels in blood and other body fluids resulting in the most common inborn error of amino acid metabolism (phenylketonuria). Persistently
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ec34ddd023de871a85080df47b2e6bb
https://hdl.handle.net/10400.17/3707
https://hdl.handle.net/10400.17/3707
Autor:
Sílvia Sequeira
Publikováno v:
Portuguese Journal of Pediatrics, Vol 52, Iss 2 (2021)
Hyperammonemia can be a potentially fatal disorder, secondary to several different etiologies, most commonly urea cycle defects and organic acidurias. The deficiency of mitochondrial carbonic anhydrase VA, a recently recognized metabolic disorder, re
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::48608361d673a92e017cde57aac6e063
https://hdl.handle.net/10400.17/4244
https://hdl.handle.net/10400.17/4244
Autor:
Ferreira, Ana Cristina, Alves, Ana Catarina, Medeiros, Ana Margarida, Padeira, Gonçalo, Bourbon, Mafalda
Publikováno v:
Portuguese Journal of Pediatrics; Vol. 52 No. 4 (2021)
Portuguese Journal of Pediatrics; Vol. 52 N.º 4 (2021)
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Portuguese Journal of Pediatrics, Vol 52, Iss 4 (2021)
Portuguese Journal of Pediatrics; Vol. 52 N.º 4 (2021)
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Portuguese Journal of Pediatrics, Vol 52, Iss 4 (2021)
Familial Hypercholesterolemia (FH) is a common genetic hypercholesterolemia caused by mutations in LDLR, APOB and PCSK9 that leads to premature atherosclerosis. Other rare disorders like sitosterolemia can present the same phenotype but have distinct
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bb67f1710e49501bb438a3fe6113cee2
https://hdl.handle.net/10400.17/4279
https://hdl.handle.net/10400.17/4279
Publikováno v:
Neuropediatrics, 48, 382-384
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP
Neuropediatrics, 48, 5, pp. 382-384
Neuropediatrics 48, 382-384 (2017)
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP
Neuropediatrics, 48, 5, pp. 382-384
Neuropediatrics 48, 382-384 (2017)
3-MEthylGlutaconic aciduria, Deafness, Encephalopathy, neuroradiological evidence of Leigh-like disease (MEGDEL syndrome) was initially described in four children with additional features of defective oxidative phosphorylation. Loss of functional var
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0beca7742b55fbef4ea2d0dda290c19a
https://doi.org/10.1055/s-0037-1602833
https://doi.org/10.1055/s-0037-1602833
Autor:
Fernando Nolasco, Ana Azevedo, Maria Céu Santos, Teresa Fidalgo, Laura Vilarinho, David Navarro, Joaquim Calado, Sílvia Sequeira, Ana Carina Ferreira, Fernanda Carvalho
Publikováno v:
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP
Free PMC Article: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5886929/ Thrombotic microangiopathy (TMA) syndromes can be secondary to a multitude of different diseases. Most can be identified with a systematic approach and, when excluded, TMA is gen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c681ea4a51ffffe5e918af84ee3edd6
https://hdl.handle.net/10400.4/2181
https://hdl.handle.net/10400.4/2181
Autor:
Lambert P. van den Heuvel, G. Herma Renkema, Richard J. Rodenburg, Heike Olbrich, Heymut Omran, Huub J. M. Op den Camp, Marijn Oude Elberink, Ron A. Wevers, Christian Gilissen, Edwin Winkel, Albert Tangerman, K Otfried Schwab, Hanka Venselaar, J. Silvia Sequeira, Arjan Pol, Udo F. H. Engelke, Arjan P.M. de Brouwer, Kevin C K Lloyd, Jörn Oliver Sass, Renee S. Araiza, Hendrik Schäfer
Publikováno v:
Nature Genetics, 50, 1, pp. 120-131
Nature Genetics, 50(1), 120-129. Nature Publishing Group
Nature genetics
Nature Genetics, 50, 120-131
Nature Genetics
Nature Genetics, vol 50, iss 1
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP
Nature Genetics, 50(1), 120-129. Nature Publishing Group
Nature genetics
Nature Genetics, 50, 120-131
Nature Genetics
Nature Genetics, vol 50, iss 1
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP
Selenium-binding protein 1 (SELENBP1) has been associated with several cancers, although its exact role is unknown. We show that SELENBP1 is a methanethiol oxidase (MTO), related to the MTO in methylotrophic bacteria, that converts methanethiol to H2
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::81775b47c5158b411e529d0e67cb293a
https://hdl.handle.net/2066/183968
https://hdl.handle.net/2066/183968