Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Ziga I. Remec"'
Autor:
Ziga I. Remec, Katarina Trebusak Podkrajsek, Barbka Repic Lampret, Jernej Kovac, Urh Groselj, Tine Tesovnik, Tadej Battelino, Marusa Debeljak
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
Newborn screening was first introduced at the beginning of the 1960s with the successful implementation of the first phenylketonuria screening programs. Early expansion of the included disorders was slow because each additional disorder screened requ
Externí odkaz:
https://doaj.org/article/7b9761f18fc04a4885fd3a0463869259
Autor:
Ziga I. Remec, Urh Groselj, Ana Drole Torkar, Mojca Zerjav Tansek, Vanja Cuk, Dasa Perko, Blanka Ulaga, Neza Lipovec, Marusa Debeljak, Jernej Kovac, Tadej Battelino, Barbka Repic Lampret
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
Very long-chain acyl-CoA dehydrogenase deficiency (VLCADD) is a rare autosomal recessive disorder of fatty acid metabolism with a variable presentation. The aim of this study was to describe five patients with VLCADD diagnosed through the pilot study
Externí odkaz:
https://doaj.org/article/b16e1a4f08684063b03ea251ef6ce573