Zobrazeno 1 - 10
of 20
pro vyhledávání: '"Maria Clara Sá Miranda"'
Autor:
Paula Mendes, Isabel Meneses, Luis Monteiro, Teresa Coelho, Cristiana Vasconcelos, Manuela Lemos, Rita Ferreira, Maria Clara Sá Miranda
Publikováno v:
Acta Médica Portuguesa, Vol 16, Iss 4 (2003)
The X-linked adrenoleukodystrophy (ALD) is a genetic disease, caused by a defect mapped to Xq28. It is characterised by progressive demyelination of the cerebral white matter and adrenal insufficiency. The most important change that occurs is the acc
Externí odkaz:
https://doaj.org/article/6984d33c3cd74542abf3ac6259279473
Autor:
Vitor Hugo Teixeira, André Nadais, Elísio Silva, Vítor Costa, Joana Gaifem, Rita Vilaça, Yusuf A. Hannun, Maria Clara Sá Miranda, Nabil Matmati
Publikováno v:
Molecular Microbiology. 91:438-451
The Niemann-Pick type C is a rare metabolic disease with a severe neurodegenerative phenotype characterized by an accumulation of high amounts of lipids (cholesterol and sphingolipids) in the late endosomal/lysosomal network. It is caused by loss-of-
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::be6363bd90eedc3bb965194b1e9ef5cb
https://doi.org/10.1111/mmi.12470
https://doi.org/10.1111/mmi.12470
Publikováno v:
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Fabry disease is a lysosomal storage disease caused by deficient activity of the α-Galactosidase A (α-Gal A) enzyme, which leads to abnormal accumulation of glycosphingolipids, mainly globotriaosylceramide (Gb3), in the lysosome. Glycosphingolipids
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::40b12467f6339e60ce65ce44f092f17d
https://doi.org/10.1016/j.ymgme.2012.02.014
https://doi.org/10.1016/j.ymgme.2012.02.014
Publikováno v:
Immunobiology. 215:505-513
Gaucher disease (GD) is associated with upregulation of CD1d and MHC-class II expression by monocytes. While the physiological impact of CD1d upregulation remains uncertain, it has been proposed that MHC-class II upregulation is associated with infla
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1fbbb4d90661535057822cc64cce8e87
https://doi.org/10.1016/j.imbio.2009.07.002
https://doi.org/10.1016/j.imbio.2009.07.002
Autor:
Idalina Beirão, José Lopes Lima, Jorge E. Azevedo, Andrea Balreira, João Chaves, Daniel Caiola, Maria Clara Sá Miranda, Paulo Gaspar
Publikováno v:
Human Molecular Genetics. 17:2238-2243
The main clinical features of two siblings from a consanguineous marriage were progressive myoclonic epilepsy without intellectual impairment and a nephrotic syndrome with a strong accumulation of C1q in capillary loops and mesangium of kidney. The b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ac3c1a2cd130f8e208ca4fe0fbb8eb6
https://doi.org/10.1093/hmg/ddn124
https://doi.org/10.1093/hmg/ddn124
Autor:
Daniel Rodrigues, Pedro Oliveira, Marisa Assunção, Damião Cunha, Macedo Mf, Olga Azevedo, Rui Quinta, Maria Clara Sá Miranda
Publikováno v:
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Fabry disease is an X-linked lysosomal storage disease (LSD) caused by deficient activity of α-Galactosidase A (α-Gal A). As a result, glycosphingolipids, mainly globotriaosylceramide (Gb3), progressively accumulate in body fluids and tissues. Stud
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f9cfad666388a51141984ef2f3d1f9d0
https://hdl.handle.net/1822/61997
https://hdl.handle.net/1822/61997
Autor:
Rita, Vilaça, Elísio, Silva, André, Nadais, Vítor, Teixeira, Nabil, Matmati, Joana, Gaifem, Yusuf A, Hannun, Maria Clara, Sá Miranda, Vítor, Costa
Publikováno v:
Molecular microbiology. 91(3)
The Niemann-Pick type C is a rare metabolic disease with a severe neurodegenerative phenotype characterized by an accumulation of high amounts of lipids (cholesterol and sphingolipids) in the late endosomal/lysosomal network. It is caused by loss-of-
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::ba713dcea6654f2162d15341212966a5
https://pubmed.ncbi.nlm.nih.gov/24286211
https://pubmed.ncbi.nlm.nih.gov/24286211
Publikováno v:
Scopus-Elsevier
A single nucleotide transversion (G-->C) in the 5' donor site of intron 7 of the beta-hexosaminidase alpha-chain gene was identified in two Portuguese patients with infantile Tay-Sachs disease. One patient was found to be homozygous and the other a c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e2395fc39ee7c48af3497130e4032b45
https://doi.org/10.1016/0925-4439(94)00070-7
https://doi.org/10.1016/0925-4439(94)00070-7
Autor:
Paula, Mendes, Isabel, Meneses, Luis, Monteiro, Teresa, Coelho, Cristiana, Vasconcelos, Manuela, Lemos, Rita, Ferreira, Maria Clara, Sá Miranda
Publikováno v:
Acta medica portuguesa. 16(4)
The X-linked adrenoleukodystrophy (ALD) is a genetic disease, caused by a defect mapped to Xq28. It is characterised by progressive demyelination of the cerebral white matter and adrenal insufficiency. The most important change that occurs is the acc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::1dcf1bee7abd64060e64be94f4afb385
https://pubmed.ncbi.nlm.nih.gov/22226218
https://pubmed.ncbi.nlm.nih.gov/22226218
Autor:
Fernando A. Arosa, Macedo Mf, Maria Clara Sá Miranda, Andrea Balreira, Cristina Girão, João Paulo Oliveira, Lorena G. Rodrigues
Publikováno v:
British Journal of Haematology.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::44c21e2f5fbc96ff8be8db038b9a9a1a
https://doi.org/10.1111/j.1365-2141.2008.07380.x
https://doi.org/10.1111/j.1365-2141.2008.07380.x