Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Dias, Aureliano"'
Autor:
Padeira, Gonçalo, Garcia, Ana Margarida, Conde, Marta, Carvalho, Rodrigo, João, Alexandre, Gomes, Inês, Correia, Carla, Valongo, Carla, Dias, Aureliano, Alves, Ana Catarina, Medeiros, Ana, Bourbon, Mafalda, Ferreira, Ana Cristina
A Sitosterolémia (OMIM 210250) é uma doença autossómica recessiva rara causada por mutações nos genes ABCG5/ABCG8 que codificam o transportador intestinal e biliar dos esteróis vegetais, com consequente acumulação no sangue e tecidos. Caract
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2016::90365acc00b4d70532d68a1aa12b7a05
https://hdl.handle.net/10400.18/4306
https://hdl.handle.net/10400.18/4306
Os esteróis desempenham um papel fundamental nos processos fisiológicos de praticamente todos os organismos vivos. O esterol mais abundante nos seres humanos é o colesterol, o qual desempenha uma multiplicidade de funções desde a estrutural à s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2016::bb69b59cc6a8a238788a1818228eb8e7
https://hdl.handle.net/10400.18/3894
https://hdl.handle.net/10400.18/3894
Autor:
Coelho, Margarida Paiva, Correia, Joana, Dias, Aureliano, Nogueira, Célia, Bandeira, Anabela, Martins, Esmeralda, Vilarinho, Laura
Publikováno v:
Journal of Inherited Metabolic Disease Reports; Sep2019, Vol. 49 Issue 1, p11-16, 6p
Background: Primary hyperoxaluria Type 1 (PH1) is a rare autosomal recessive inborn error of glyoxylate metabolism, caused by a deficiency of the liver-specific peroxisomal enzyme alanine:glyoxylate aminotransferase. The disorder results in overprodu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2016::bffa02dc48a24324daafed153f177999
https://hdl.handle.net/10400.18/4224
https://hdl.handle.net/10400.18/4224
IGMJM, Unidade de Enzimologia- Porto and IBMC, Unilipe- Universidade do Porto Resumo disponível em: J Inherit Metab Dis. 2004;27 Supl 1:184 (363P) Mucopolysaccharidosis type VI (MPS VI, OMIM 253200) is a rare autosomal recessive disorder characteriz
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d946c1b2aff55858ecc69f3b1ccfd9a7
https://hdl.handle.net/10400.18/705
https://hdl.handle.net/10400.18/705
Autor:
Castro, Patrícia, Sansonetty, Filipe, Soares, Paula, Dias, Aureliano, Sobrinho-Simões, Manuel, Castro, P, Sansonetty, F, Soares, P, Dias, A, Sobrinho-Simões, M
Publikováno v:
Virchows Archiv: European Journal of Pathology; Apr2001, Vol. 438 Issue 4, p336-342, 7p
Autor:
Maciel, Patrícia, Gaspar, Claudia, Guimarães, Laura, Goto, Jun, Lopes-Cendes, Iscia, Hayes, Sean, Arvidsson, Karin, Dias, Aureliano, Sequeiros, Jorge, Sousa, Alda, Rouleau, Guy A
Publikováno v:
European Journal of Human Genetics; Mar1999, Vol. 7 Issue 2, p147, 10p
Autor:
Freitas, Cristina, Milanezi, Fernanda, Dias, Aureliano Jorge, Bento, Maria José, Schmitt, Fernando Carlos
Publikováno v:
Diagnostic Cytopathology; Dec2001, Vol. 25 Issue 6, p415-416, 2p
Publikováno v:
Diagnostic Cytopathology; Jul2000, Vol. 23 Issue 1, p27-28, 2p
Autor:
Coelho MP; Reference Center for Metabolic Disorders Centro Hospitalar Universitário do Porto Porto Portugal., Correia J; Reference Center for Metabolic Disorders Centro Hospitalar Universitário do Porto Porto Portugal., Dias A; Newborn Screening, Metabolism and Genetics Unit, Human Genetics Department National Institute of Health Doutor Ricardo Jorge Lisboa Portugal., Nogueira C; Newborn Screening, Metabolism and Genetics Unit, Human Genetics Department National Institute of Health Doutor Ricardo Jorge Lisboa Portugal., Bandeira A; Reference Center for Metabolic Disorders Centro Hospitalar Universitário do Porto Porto Portugal., Martins E; Reference Center for Metabolic Disorders Centro Hospitalar Universitário do Porto Porto Portugal., Vilarinho L; Newborn Screening, Metabolism and Genetics Unit, Human Genetics Department National Institute of Health Doutor Ricardo Jorge Lisboa Portugal.
Publikováno v:
JIMD reports [JIMD Rep] 2019 Jul 24; Vol. 49 (1), pp. 11-16. Date of Electronic Publication: 2019 Jul 24 (Print Publication: 2019).