Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Lydia Raither"'
Autor:
Jason A. Randall, Carolyn Sutter, Lydia Raither, Stella Wang, Evan Bailey, Riccardo Perfetti, Shoshana Shendelman, Claire Burbridge
Publikováno v:
Journal of Patient-Reported Outcomes, Vol 7, Iss 1, Pp 1-13 (2023)
Abstract Background Classic Galactosemia (CG) is a rare, autosomal recessive condition. Newborn screening and a timely galactose-restricted diet can resolve acute symptoms and decrease fatalities, but significant chronic, progressive morbidities rema
Externí odkaz:
https://doaj.org/article/ac73561b1efa45a78205704f4a2e75de
Autor:
Evan Bailey, Jason Randall, Carolyn Sutter, Lydia Raither, Stella Wang, Riccardo Perfetti, Shoshana Shendelman, Claire Burbridge
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 100924- (2024)
Externí odkaz:
https://doaj.org/article/5a10f797663a4accb677ce12b14df16e
Autor:
Jason A. Randall, Carolyn Sutter, Stella Wang, Evan Bailey, Lydia Raither, Riccardo Perfetti, Shoshana Shendelman, Claire Burbridge
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-10 (2022)
Abstract Background Classic Galactosemia is a rare, autosomal recessive disease in which galactose is not metabolized properly due to severe deficiency/absence of the galactose-1-phosphate uridylyltransferase (GALT) enzyme, converting to an aberrant
Externí odkaz:
https://doaj.org/article/6b5fca28cd5c46cc9feac38173f94204