Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Ana Carolina Groehs"'
Autor:
Carmen Regla Vargas, Daniella de Moura Coelho, Marion Deon, Ana Carolina Groehs, Angela Sitta, Aline Kayser, Moacir Wajner
Publikováno v:
Genetics and Molecular Biology
Genetics and Molecular Biology, Issue: ahead, Published: 11 APR 2019
Genetics and Molecular Biology, Volume: 42, Issue: 1 Supplement 1, Pages: 178-185, Published: 11 APR 2019
Repositório Institucional da UFRGS
Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGS
Genetics and Molecular Biology, Iss 0 (2019)
Genetics and Molecular Biology v.42 n.1 suppl.1 2019
Sociedade Brasileira de Genética (SBG)
instacron:SBG
Genetics and Molecular Biology, Issue: ahead, Published: 11 APR 2019
Genetics and Molecular Biology, Volume: 42, Issue: 1 Supplement 1, Pages: 178-185, Published: 11 APR 2019
Repositório Institucional da UFRGS
Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGS
Genetics and Molecular Biology, Iss 0 (2019)
Genetics and Molecular Biology v.42 n.1 suppl.1 2019
Sociedade Brasileira de Genética (SBG)
instacron:SBG
Organic acidurias and aminoacidopathies are groups of frequent inborn errors of metabolism (IEMs), which are caused by mutations in specific genes that lead to loss of protein/enzyme or transport function with important deleterious effects to cell me
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a8361a94b533552f34708f454e48902
https://doi.org/10.1590/1678-4685-gmb-2018-0105
https://doi.org/10.1590/1678-4685-gmb-2018-0105
Autor:
Gilian Guerreiro, Marion Deon, Ana Carolina Groehs, Jéssica Lamberty Faverzani, Angela Sitta, Carmen Regla Vargas, Rafael Teixeira Ribeiro, Moacir Wajner, Alexandre Umpierrez Amaral
Publikováno v:
Biochimica et biophysica acta. Molecular basis of disease. 1865(9)
The deficiency of the enzyme glutaryl-CoA dehydrogenase leads to predominant accumulation of glutaric acid (GA) in the organism and is known as glutaric acidemia type I (GA1). Despite the mechanisms of brain damage involved in GA1 are not fully under
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9643e268e5a120422e0390d0a1e0c6b2
https://pubmed.ncbi.nlm.nih.gov/31181292
https://pubmed.ncbi.nlm.nih.gov/31181292