Zobrazeno 1 - 5
of 5
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
Autor:
Collin-Histed, Tanya1 (AUTHOR), Rosenberg, Aviva1 (AUTHOR), Hopman, Noortje2 (AUTHOR) noortje.hopman@67health.co.uk, Pacey, Jessica2 (AUTHOR)
Publikováno v:
Orphanet Journal of Rare Diseases. 1/7/2023, Vol. 18 Issue 1, p1-5. 5p.
Autor:
Akeroyd, Michael, MacDonald, Ian, Wood, Michael, Pacey, Jessica, Bibby, Ron, Kennedy, James, Sherwood, Marika, Eastley, Alan, OBE, R Pacak
Publikováno v:
BBC History Magazine; Apr2019, p18-19, 2p, 2 Color Photographs, 1 Black and White Photograph