Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Alfredo Zuppaldi"'
Publikováno v:
Journal of Separation Science. 33:966-973
Orotic acid (ORA) is an intermediate metabolite in the pathway of pyrimidine nucleotides; its urinary excretion is useful to diagnose the hereditary orotic aciduria and some hyperammonemic inherited defects of urea cycle enzymes and amino acid transp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::df2cfd44f86320fc1287aa822259bfd3
https://doi.org/10.1002/jssc.200900758
https://doi.org/10.1002/jssc.200900758
Autor:
M Gabriela Pittis, Andrea Ballabio, Francesca Donaudy, Germana Meroni, Alice Donati, Barbara Rossi, Caterina Porto, Alfredo Zuppaldi, Mirella Filocamo, Massimiliano Rossi, Bruno Bembi, Generoso Andria, Giancarlo Parenti, M Rosaria Tuzzi, Ida Annunziata
Publikováno v:
Molecular Therapy. 15:508-514
We investigated the use of pharmacological chaperones for the therapy of Pompe disease, a metabolic myopathy due to mutations of the gene encoding the lysosomal hydrolase alpha-glucosidase (GAA) and characterized by generalized glycogen storage in ca
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e210b6a2634b1baabcea4df1dda90231
https://doi.org/10.1038/sj.mt.6300074
https://doi.org/10.1038/sj.mt.6300074
Orotic acid (ORA) is an intermediate metabolite in the pathway of pyrimidine nucleotides; its urinary excretion is useful to diagnose the hereditary orotic aciduria and some hyperammonemic inherited defects of urea cycle enzymes and amino acid transp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::baaec869615e33a54bffd50865ffbe31
http://hdl.handle.net/10281/244067
http://hdl.handle.net/10281/244067
