Zobrazeno 1 - 10 of 26 pro vyhledávání: '"Silvia Sequeira"'
1
Akademický článek
Rare primary dyslipidaemias associated with low LDL and HDL cholesterol values in Portugal
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
Publikováno v: Frontiers in Genetics, Vol 13 (2023)
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://doaj.org/article/12a0bc5a3f654ae398334f101a2be906
Zobrazit plný text záznamu
2
Akademický článek
Phenylketonuria in Portugal: Genotype–phenotype correlations using molecular, biochemical, and haplotypic analyses
Autor: Filipa Ferreira, Luísa Azevedo, Raquel Neiva, Carmen Sousa, Helena Fonseca, Ana Marcão, Hugo Rocha, Célia Carmona, Sónia Ramos, Anabela Bandeira, Esmeralda Martins, Teresa Campos, Esmeralda Rodrigues, Paula Garcia, Luísa Diogo, Ana Cristina Ferreira, Silvia Sequeira, Francisco Silva, Luísa Rodrigues, Ana Gaspar, Patrícia Janeiro, António Amorim, Laura Vilarinho
Publikováno v: Molecular Genetics & Genomic Medicine, Vol 9, Iss 3, Pp n/a-n/a (2021)
Abstract 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). Per
Externí odkaz: https://doaj.org/article/9eab7f6ab4204d20b65d07db2cb1d539
Zobrazit plný text záznamu
4
Whole exome sequencing identifies multiple diagnoses in congenital glaucoma with systemic anomalies
Autor: Silvia Sequeira, Kathryn Hendee, Eric Weh, Kala F. Schilter, John A. Phillips, Linda M. Reis, Albert Schinzel, Elena V. Semina, Rebecca C. Tyler
Publikováno v: Clinical Genetics. 90:378-382
The genetic basis of congenital glaucoma with systemic anomalies is largely unknown. Whole exome sequencing (WES) in 10 probands with congenital glaucoma and variable systemic anomalies identified pathogenic or likely pathogenic variants in three pro
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::4309b3c95f308ed8fbd321cdee45aa45
https://doi.org/10.1111/cge.12816
Zobrazit plný text záznamu
5
MEGDEL Syndrome: Expanding the Phenotype and New Mutations
Autor: Márcia Rodrigues, Silvia Sequeira, Saskia B. Wortmann, Sandra Jacinto, Ron A. Wevers
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)
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
Zobrazit plný text záznamu
6
Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosis
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
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
Zobrazit plný text záznamu
7
Leucine Loading Test is Only Discriminative for 3-Methylglutaconic Aciduria Due to AUH Defect
Autor: Leo A. J. Kluijtmans, Eva Morava, Silvia Sequeira, Saskia B. Wortmann, Ron A. Wevers
Publikováno v: JIMD Reports ISBN: 9783662445860
Currently, six inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature are known. The “Primary 3-methylglutaconic aciduria,” 3-methylglutaconyl-CoA hydratase deficiency or AUH defect, is a disorder of leucine catabo
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e515d34ce32b161d14be099195ad8aae
https://doi.org/10.1007/8904_2014_309
Zobrazit plný text záznamu
8
Periodical
INFORMACIÓN COLEGIAL.
Publikováno v: Guía de la Psicología. dec2022, Issue 438, p20-23. 4p.
Zobrazit plný text záznamu
9
Akademický článek
ESTUDIO RETROSPECTIVO DE LEPTOSPIROSIS EN LA POBLACIÓN HUMANA Y ANIMAL EN MUNICIPIOS HABANEROS ENTRE 1987 - 2006.
Autor: Fabré, Y.1 yolexis_fabre@isch.edu.cu, Suárez, Yolanda1, Rodríguez, O.2, Martínez, Hilda, Feraud, Dania1, Cruz, Miriam, De Los Ángeles López, María
Publikováno v: Revista de Salud Animal. sep2010, Vol. 32 Issue 3, p180-187. 8p. 7 Charts, 3 Graphs.
Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání

Omezení vyhledávání
Plný text Recenzováno Digitální knihovna AV ČR
Zdroje