Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Pâmella Borges"'
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-9 (2020)
Abstract Background In this study, the prevalence of different types of mucopolysaccharidoses (MPS) was estimated based on data from the exome aggregation consortium (ExAC) and the genome aggregation database (gnomAD). The population-based allele fre
Externí odkaz:
https://doaj.org/article/1c12f9b1c4f54d9d98be953a87b012c7
Publikováno v:
Frontiers in Molecular Biosciences, Vol 8 (2021)
Mucopolysaccharidosis type I (MPS I) is an autosomal recessive disease characterized by the deficiency of alpha-L-iduronidase (IDUA), an enzyme involved in glycosaminoglycan degradation. More than 200 disease-causing variants have been reported and c
Externí odkaz:
https://doaj.org/article/b330f85ec25241b4adffa098091fde51
Autor:
Gabriela Pasqualim, Ursula da Silveira Matte, Filippo Vairo, Roberto Giugliani, Pâmella Borges
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-9 (2020)
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases
Background In this study, the prevalence of different types of mucopolysaccharidoses (MPS) was estimated based on data from the exome aggregation consortium (ExAC) and the genome aggregation database (gnomAD). The population-based allele frequencies
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::29de17a66a6fbf093ca2b48b54d3ffa6
http://link.springer.com/article/10.1186/s13023-020-01608-0
http://link.springer.com/article/10.1186/s13023-020-01608-0
Autor:
Marina Hentschke-Lopes, Mariana R. Botton, Pâmella Borges, Martiela Freitas, Aline Castello Branco Mancuso, Ursula Matte
Publikováno v:
Cadernos de Saúde Pública v.38 n.7 2022
Cadernos de Saúde Pública
Fundação Oswaldo Cruz (FIOCRUZ)
instacron:FIOCRUZ
Cadernos de Saúde Pública
Fundação Oswaldo Cruz (FIOCRUZ)
instacron:FIOCRUZ
Off-label use of azithromycin, hydroxychloroquine, and ivermectin (the “COVID kit”) has been suggested for COVID-19 treatment in Brazil without clinical or scientific evidence of efficacy. These drugs have known adverse drug reactions (ADR). This
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c9d7057ac98bcea8bedfe948b03ae123
https://pubmed.ncbi.nlm.nih.gov/35894360
https://pubmed.ncbi.nlm.nih.gov/35894360
Autor:
Bofei Wang, Patrick K. Reville, Mhd Yousuf Yassouf, Fatima Z. Jelloul, Christopher Ly, Poonam N. Desai, Zhe Wang, Pamella Borges, Ivo Veletic, Enes Dasdemir, Jared K. Burks, Guilin Tang, Shengnan Guo, Araceli Isabella Garza, Cedric Nasnas, Nicole R. Vaughn, Natalia Baran, Qing Deng, Jairo Matthews, Preethi H. Gunaratne, Dinler A. Antunes, Suhendan Ekmekcioglu, Koji Sasaki, Miriam B. Garcia, Branko Cuglievan, Dapeng Hao, Naval Daver, Michael R. Green, Marina Konopleva, Andrew Futreal, Sean M. Post, Hussein A. Abbas
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-16 (2024)
Abstract Interferon gamma (IFNγ) is a critical cytokine known for its diverse roles in immune regulation, inflammation, and tumor surveillance. However, while IFNγ levels were elevated in sera of most newly diagnosed acute myeloid leukemia (AML) pa
Externí odkaz:
https://doaj.org/article/03859817a55c485c9cfde6439e811923
Additional file 3. The number of variants excluded from the analysis for each MPS gene.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d411c9e536bf014d60c0aa9751f6fc78
Additional file 2. The total number of variants excluded for homozygosis for each MPS gene and the number of homozygosis variants with frequency less than 0.001.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e940b4843feba624272078cfc572e86
Publikováno v:
Journal of Inborn Errors of Metabolism and Screening, Vol 10 (2022)
Abstract Mucopolysaccharidoses (MPS) are lysosomal diseases caused by deficiencies in lysosomal enzymes involved in the degradation of glycosaminoglycans (GAGs). Sensorineural hearing impairment is a common feature in MPS patients, but there is no co
Externí odkaz:
https://doaj.org/article/cece6715eab549b6953cfa349b821cb7