Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Jessica Pacey"'
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-5 (2023)
Abstract Background Gaucher disease is a rare, autosomal recessive genetic disorder. It is caused by a lack of sufficient activity of the lysosomal enzyme known as glucocerebrosidase, which leads to an accumulation of glucocerebroside, a fatty substa
Externí odkaz:
https://doaj.org/article/fcad01631f9c4e278820ee073d50558b
Autor:
William Evans, Marc Patterson, Frances Platt, Christina Guldberg, Toni Mathieson, Jessica Pacey, the Core Working Group for the Delphi Study
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-22 (2021)
Abstract Background Several scales have been developed in the past two decades to evaluate Niemann–Pick disease Type C (NPC) severity in clinical practice and trials. However, a lack of clarity concerning which scale to use in each setting is preve
Externí odkaz:
https://doaj.org/article/46cfd0e5c0d2451ea0832be576c10057
Autor:
Daniel Swerdlow, Sandra Revill Tremulis, Marlys Koschinsky, Giles Campion, Emma Green, Rosamund Wilson, Jessica Pacey, Henry Ginsberg
Publikováno v:
Journal of Clinical Lipidology. 15:e17