Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Graziela Schmitt Ribas"'
Autor:
Graziela Schmitt Ribas PhD, Jurema Fátima De Mari, Gabriel Civallero PhD, Heryk Motta de Souza, Maira Graeff Burin PhD, Carmen Regla Vargas PhD, Roberto Giugliani PhD
Publikováno v:
Journal of Inborn Errors of Metabolism and Screening, Vol 5 (2017)
Background: Interest in screening methods for lysosomal storage diseases (LSDs) has increased in recent years, since early diagnosis and treatment are essential to prevent or attenuate the onset of symptoms and the complications of these diseases. In
Externí odkaz:
https://doaj.org/article/ce833493563641e6a5b3bc28e45ba1f4
Autor:
Franciele Fátima Lopes, Angela Sitta, Daniella de Moura Coelho, Graziela Schmitt Ribas, Jéssica Lamberty Faverzani, Bianca Gomes dos Reis, Moacir Wajner, Carmen Regla Vargas
Publikováno v:
International Journal of Developmental Neuroscience. 82:771-787
Urea cycle disorders (UCD) are a group of genetic diseases caused by deficiencies in the enzymes and transporters involved in the urea cycle. The impairment of the cycle results in ammonia accumulation, leading to neurological dysfunctions and poor o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b0fb2feac7c5b2518043399e6b8a8ca4
https://doi.org/10.1002/jdn.10229
https://doi.org/10.1002/jdn.10229
Publikováno v:
Cellular and molecular neurobiology. 42(3)
Mitochondrial fatty acid β-oxidation disorders (FAODs) are a group of about 20 diseases which are caused by specific mutations in genes that codify proteins or enzymes involved in the fatty acid transport and mitochondrial β-oxidation. As a consequ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::50383dd2706a91b57e5554c37bcb9008
https://pubmed.ncbi.nlm.nih.gov/32876899
https://pubmed.ncbi.nlm.nih.gov/32876899