Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Ana Teresa Vide"'
Autor:
Olga Azevedo, Miguel F. Gago, Gabriel Miltenberger-Miltenyi, Ana Raquel Robles, Maria Antónia Costa, Olga Pereira, Ana Teresa Vide, Gonçalo Castelo Branco, Sónia Simões, Maria José Guimarães, Ana Salgado, Nuno Sousa, Damião Cunha
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 22, Iss , Pp - (2020)
Background: The common GLA gene mutation p.F113L causes late-onset phenotype of Fabry disease (FD) with predominant cardiac manifestations. A founder effect of FD due to this mutation was found in the Portuguese region of Guimarães. Our study aims t
Externí odkaz:
https://doaj.org/article/5ddb85e2ab024e2882a3db291e0ae0d1
Autor:
Ana Teresa Vide, Olga Azevedo, Maria José Guimarães, Maria Antónia Costa, Damião Cunha, Miguel Gago, Gonçalo Castelo Branco, Nuno Sousa, Ana Raquel Robles, Ana Salgado, Olga Pereira, Sónia Simões, Gabriel Miltenberger-Miltenyi
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 22, Iss, Pp-(2020)
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports
Background: The common GLA gene mutation p.F113L causes late-onset phenotype of Fabry disease (FD) with predominant cardiac manifestations. A founder effect of FD due to this mutation was found in the Portuguese region of Guimarães. Our study aims t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::abf80ae45ef9c1b45c970ee1690cee12
http://www.sciencedirect.com/science/article/pii/S2214426919302113
http://www.sciencedirect.com/science/article/pii/S2214426919302113
Autor:
Estela Bicho, Ana Teresa Vide, Nuno Sousa, Paulo Gaspar, Nuno Jorge Lamas, Tiago Gil Oliveira, Joaquim J. Ferreira, Miguel Gago, Andreia Guimarães, Gabriel Miltenberger-Miltenyi, Olga Azevedo
Publikováno v:
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Journal of Parkinson's Disease
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Journal of Parkinson's Disease
Background: Sporadic Parkinson's disease (PD) patients have lower a-galactosidase A (alpha-GAL A) enzymatic activity and Fabry disease (FD) patients potentially carry an increased risk of PD.Objective: Determination of PD prevalence in FD and clinica
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::240fa118cc4e489732c1f0fa7451855d
https://hdl.handle.net/10400.18/7661
https://hdl.handle.net/10400.18/7661
Publikováno v:
BMJ Case Rep
Pneumolabyrinth is the entrapment of air within the inner ear and is a rare complication of stapes surgery. We report the case of a patient submitted to stapedectomy who, 4 weeks later, suddenly developed right hearing loss, ipsilateral tinnitus and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ab6d6ed7de510641e85fae5afb57778
https://pubmed.ncbi.nlm.nih.gov/31690690
https://pubmed.ncbi.nlm.nih.gov/31690690
Publikováno v:
BMJ Case Rep
Extranodal natural killer/T cell lymphoma, nasal type (ENKL) is a rare and aggressive tumour that can, clinically and histologically, mimic infectious and inflammatory conditions, presenting a diagnostic challenge. The authors report the case of a 69
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cb997e559377d2072556f5ba8e39a99e
https://doi.org/10.1136/bcr-2019-232404
https://doi.org/10.1136/bcr-2019-232404
Publikováno v:
Neurological Sciences. 33:711-713
Subacute combined degeneration (SCD) is a rare cause of demyelination of the dorsal and lateral columns of the spinal cord, and is a neurogenic complication due to vitamin B12 deficiency, that we observe with unusual frequency. Improvement in myelopa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2645fa9a15844ab5757464f58d686775
https://doi.org/10.1007/s10072-011-0810-2
https://doi.org/10.1007/s10072-011-0810-2