Zobrazeno 1 - 10
of 36
pro vyhledávání: '"Anabela, Bandeira"'
Autor:
Gonçalo Pelayo, Margarida Paiva Coelho, Joana Correia, Anabela Bandeira, Célia Nogueira, Laura Vilarinho, Esmeralda Martins
Publikováno v:
Neurobiology of Disease, Vol 200, Iss , Pp 106644- (2024)
Mitochondrial glutamyl-aminoacyl tRNA synthetase deficiency, stemming from biallelic mutations in the EARS2 gene, was first described in 2012. With
Externí odkaz:
https://doaj.org/article/9fad257c3ea54ff6adaa664dad31f18f
Autor:
Antonio Gónzalez-Meneses, Mercè Pineda, Anabela Bandeira, Patrícia Janeiro, María Ángeles Ruiz, Luisa Diogo, Ramón Cancho-Candela
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021)
Abstract Background Mucopolysaccharidosis type VII (Sly syndrome) is an ultra-rare neurometabolic disorder caused by inherited deficiency of the lysosomal enzyme β-glucuronidase. Precise data regarding its epidemiology are scarce, but birth prevalen
Externí odkaz:
https://doaj.org/article/72104a0d828544ed9e06b17ee583309d
Autor:
Rita Gomes, Bebiana Sousa, Cláudia Falcão Reis, Anabela Bandeira, Lurdes Morais, Sandra Pereira, Sara Leite, Carmen Carvalho
Publikováno v:
Journal of Pediatric and Neonatal Individualized Medicine, Vol 11, Iss 2, Pp e110227-e110227 (2022)
Case report: A 20-year-old woman was referred to our tertiary center due to hydrops fetalis (HF) diagnosed at 24 weeks of gestation. She had severe acne and underwent treatment with isotretinoin up to a month before pregnancy. The parents were consan
Externí odkaz:
https://doaj.org/article/718b9d4a0dc244429e7aa44817e8b297
Autor:
Maria João Pena, Alex Pinto, Manuela Ferreira de Almeida, Catarina de Sousa Barbosa, Paula Cristina Ramos, Sara Rocha, Arlindo Guimas, Rosa Ribeiro, Esmeralda Martins, Anabela Bandeira, Cláudia Camila Dias, Anita MacDonald, Nuno Borges, Júlio César Rocha
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-10 (2021)
Abstract Background In phenylketonuria (PKU), modified casein glycomacropeptide supplements (CGMP-AA) are used as an alternative to the traditional phenylalanine (Phe)-free L-amino acid supplements (L-AA). However, studies focusing on the long-term n
Externí odkaz:
https://doaj.org/article/73371a146c35491cbbe68d03cad4508e
Autor:
Hana Pavlu-Pereira, Maria João Silva, Cristina Florindo, Sílvia Sequeira, Ana Cristina Ferreira, Sofia Duarte, Ana Luísa Rodrigues, Patrícia Janeiro, Anabela Oliveira, Daniel Gomes, Anabela Bandeira, Esmeralda Martins, Roseli Gomes, Sérgia Soares, Isabel Tavares de Almeida, João B. Vicente, Isabel Rivera
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-14 (2020)
Abstract 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 phenotyp
Externí odkaz:
https://doaj.org/article/37f927c3888f4a17b355b563b8381907
Autor:
Sara Mosca, Graça Araújo, Vanessa Costa, Joana Correia, Anabela Bandeira, Esmeralda Martins, Helena Mansilha, Mónica Tavares, Margarida P. Coelho
Publikováno v:
Journal of Nutrition and Metabolism, Vol 2022 (2022)
Dyslipidemias or dyslipoproteinemias are quantitative changes in total cholesterol concentration, respective fractions, or triglycerides in the plasma. Evidence supported that dyslipidemia in childhood is associated with atherosclerosis in adulthood,
Externí odkaz:
https://doaj.org/article/97b1d04750ec445891a7f541c035123b
Autor:
Margarida Paiva Coelho, Joana Correia, Aureliano Dias, Célia Nogueira, Anabela Bandeira, Esmeralda Martins, Laura Vilarinho
Publikováno v:
JIMD Reports, Vol 49, Iss 1, Pp 11-16 (2019)
Abstract In the era of genomics, the number of genes linked to mitochondrial disease has been quickly growing, producing massive knowledge on mitochondrial biochemistry. LYRM4 gene codifies for ISD11, a small protein (11 kDa) acting as an iron‐sulf
Externí odkaz:
https://doaj.org/article/c9ae8f1531444b8b8bb4b39c32c3ead2
Autor:
Dulce Quelhas, Joana Correia, Jaak Jaeken, Luísa Azevedo, Mónica Lopes-Marques, Anabela Bandeira, Liesbeth Keldermans, Gert Matthijs, Luisa Sturiale, Esmeralda Martins
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 26, Iss , Pp 100717- (2021)
SLC35A2 encodes the X-linked transporter that carries uridine diphosphate (UDP)-galactose from the cytosol to the lumen of the Golgi apparatus and the endoplasmic reticulum. Pathogenic variants have been associated to a congenital disorder of glycosy
Externí odkaz:
https://doaj.org/article/54434bbf08f84d7e9aff993eb7985c64
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
Autor:
Tânia Lopes, Margarida Coelho, Diana Bordalo, António Bandeira, Anabela Bandeira, Laura Vilarinho, Paula Fonseca, Sónia Carvalho, Cecília Martins, José Gonçalves Oliveira
Publikováno v:
Revista Paulista de Pediatria, Iss 0 (2018)
RESUMO Objetivo: A síndrome de Leigh é uma doença neurodegenerativa com incidência de 1:40.000 nados-vivos. Apresenta ampla heterogeneidade clínica, bioquímica e genética, mas com alterações neuropatorradiológicas homogêneas. Não existe t
Externí odkaz:
https://doaj.org/article/9145f089b92b4865b871d6e529ddf031