Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Miriam Bezard"'
Autor:
Silene M. Silvera-Ruiz, José A. Arranz, Johannes Häberle, Celia J. Angaroni, Miriam Bezard, Norberto Guelbert, Adriana Becerra, Fernanda Peralta, Raquel Dodelson de Kremer, Laura E. Laróvere
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-8 (2019)
Abstract Background The incidence, prevalence, and molecular epidemiology of urea cycle disorders (UCDs) in Argentina remain underexplored. The present study is the first to thoroughly assess the clinical and molecular profiles of UCD patients examin
Externí odkaz:
https://doaj.org/article/17dc06246177496fb683b009d2c14c63
Publikováno v:
Acta odontologica latinoamericana : AOL. 29(1)
Creatine (Cr) plays an important role in storage and transmission of phosphate-bound energy. Cerebral creatine deficiency syndromes comprise three inherited defects in Cr biosynthesis and transport. The aim of this study was to investigate whether Cr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::e1e74c64957624bc20e44814f6270beb
https://pubmed.ncbi.nlm.nih.gov/27701498
https://pubmed.ncbi.nlm.nih.gov/27701498