Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Tania C. Vasquez-Loarte"'
Publikováno v:
International Journal of Neonatal Screening
International Journal of Neonatal Screening, Vol 6, Iss 77, p 77 (2020)
International Journal of Neonatal Screening, Vol 6, Iss 77, p 77 (2020)
Proximal urea cycle disorders (PUCDs) have adverse outcomes such as intellectual disability and death, which may benefit from newborn screening (NBS) through early detection and prevention with early treatment. Ornithine transcarbamylase deficiency (
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::86eb4e9e1a3f57e5b597fd04c1728537
http://europepmc.org/articles/PMC7712149
http://europepmc.org/articles/PMC7712149
Publikováno v:
The patient. 13(5)
Hemophilia is an inherited disease for which current treatment is noncurative. While gene therapy and gene editing are being researched, we do not know how the hemophilia community perceives them. Herein, we explore the beliefs and values regarding t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::c6f75e9a1793783aa1a9d6b7e78be190
https://pubmed.ncbi.nlm.nih.gov/32794073
https://pubmed.ncbi.nlm.nih.gov/32794073