Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Sonia do Vale"'
Autor:
Hong-Phuc, Cudré-Cung, Noémie, Remacle, Sonia, do Vale-Pereira, Mary, Gonzalez, Hugues, Henry, Julijana, Ivanisevic, Jessica, Schmiesing, Chris, Mühlhausen, Olivier, Braissant, Diana, Ballhausen
Publikováno v:
Molecular genetics and metabolism. 126(4)
Glutaric Aciduria type I (GA-I) is caused by mutations in the GCDH gene. Its deficiency results in accumulation of the key metabolites glutaric acid (GA) and 3-hydroxyglutaric acid (3-OHGA) in body tissues and fluids. Present knowledge on the neuropa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::509b461b5f69a402488c69cafec7a481
https://pubmed.ncbi.nlm.nih.gov/30686684
https://pubmed.ncbi.nlm.nih.gov/30686684
Autor:
Ana Filipa Martins, Joao Martin Martins, Sonia do Vale, Cristopher Juhlin, Lucas Batista, Marco Franco, Dolores Lopez-Presa, Gabriel Miltenberger-Miltenyi
Publikováno v:
Journal of Endocrinology and Metabolism. 5:184-188
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3c9f9abe1990bc76adab4f1e4d2ef8d2
https://doi.org/10.14740/jem240w
https://doi.org/10.14740/jem240w
Autor:
Noémie Remacle, Paris Jafari, Diana Ballhausen, Olivier Braissant, Hong-Phuc Cudré-Cung, Sonia Do Vale Pereira
Publikováno v:
Neuroscience. 343
Glutaryl-CoA dehydrogenase (GCDH) is a mitochondrial enzyme that is involved in the degradation of tryptophan, lysine and hydroxylysine. Deficient enzyme activity leads to glutaric aciduria type-I (GA-I). This neurometabolic disease usually manifests
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3901163a79d2661ac4c1786799365cfd
https://pubmed.ncbi.nlm.nih.gov/27984186
https://pubmed.ncbi.nlm.nih.gov/27984186
Akademický článek
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Autor:
David Cordeiro Sousa, Inês Leal, Susana Moreira, Sónia do Vale, Ana S. Silva-Herdade, Patrício Aguiar, Patrícia Dionísio, Luís Abegão Pinto, Miguel A. R. B. Castanho, Carlos Marques-Neves
Publikováno v:
Frontiers in Neuroscience, Vol 13 (2019)
IntroductionOptical coherence tomography angiography (OCT-A) is a novel diagnostic tool with increasing applications in ophthalmology clinics that provides non-invasive high-resolution imaging of the retinal microvasculature. Our aim is to report in
Externí odkaz:
https://doaj.org/article/e46e80d2c0284def943c551624706efe
Autor:
Tatiana Guimarães, Miguel Nobre Menezes, Diogo Cruz, Sónia do Vale, Armando Bordalo, Arminda Veiga, Fausto J. Pinto, Dulce Brito
Publikováno v:
Revista Portuguesa de Cardiologia, Vol 36, Iss 12, Pp 959.e1-959.e5 (2017)
Resumo: A hipercalcemia é uma causa conhecida de perturbações do ritmo cardíaco, contudo, a sua associação a arritmias ventriculares é rara. Os autores apresentam o caso clínico de um doente de 53 anos de idade, com cardiomiopatia dilatada de
Externí odkaz:
https://doaj.org/article/7f1eca0f910f4d41b4f50cec3504d0e3
Autor:
Rui Plácido, Ana Filipa Martins, Susana Robalo Martins, Sónia do Vale, Ana G. Almeida, Fausto Pinto, João Martin Martins
Publikováno v:
Case Reports in Cardiology, Vol 2016 (2016)
Takotsubo cardiomyopathy (TTC) is characterized by reversible left ventricular apical and/or midventricular hypokinesia with unknown etiology. The clinical presentation is similar to acute myocardial infarction in the absence of significant obstructi
Externí odkaz:
https://doaj.org/article/edaaad8e40d448aeb7141a881879f713
Autor:
Sónia do Vale, Lenka Selinger, João Martin Martins, Ana Coelho Gomes, Manuel Bicho, Isabel do Carmo, Carles Escera
Publikováno v:
PLoS ONE, Vol 9, Iss 8, p e104869 (2014)
Dehydroepiandrosterone (DHEA) and dehydroepiandrosterone-sulphate (DHEAS) have been reported to have memory enhancement effects in humans. A neuro-stimulatory action and an anti-cortisol mechanism of action may contribute to that relation. In order t
Externí odkaz:
https://doaj.org/article/6533791f4acc4251b9812dfeae67717a
Publikováno v:
International Journal of Endocrinology, Vol 2014 (2014)
Introduction. Adrenal glands play a major role in the control of blood pressure and mild defects of steroidogenesis and/or inappropriate control of mineralocorticoid production have been reported in high blood pressure (HBP). Patients and Methods. We
Externí odkaz:
https://doaj.org/article/688466c6b0b243c5947641dc0efbb79e