Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Sebastiaan J. M. Gaemers"'
Autor:
M. Judith Peterschmitt, Selena Freisens, Lisa H. Underhill, Meredith C. Foster, Grace Lewis, Sebastiaan J. M. Gaemers
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-13 (2019)
Abstract Background Eliglustat is a first-line oral treatment for adults with Gaucher disease type 1 who have an extensive, intermediate or poor CYP2D6 metabolizer phenotype (> 90% of patients). Whereas enzyme replacement therapy for Gaucher disease
Externí odkaz:
https://doaj.org/article/1a7c6cc74994420bad517ed4fc512db9
Autor:
Raphael Schiffmann, Timothy M Cox, Jean-François Dedieu, Sebastiaan J M Gaemers, Julia B Hennermann, Hiroyuki Ida, Eugen Mengel, Pascal Minini, Pramod Mistry, Petra B Musholt, David Scott, Jyoti Sharma, M Judith Peterschmitt
Gaucher disease type 3 is a chronic neuronopathic disorder with wide-ranging effects, including hepatosplenomegaly, anaemia, thrombocytopenia, skeletal disease and diverse neurological manifestations. Biallelic mutations in GBA1 reduce lysosomal acid
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed219c4759532a6c770f7c376cc91518
https://www.repository.cam.ac.uk/handle/1810/342736
https://www.repository.cam.ac.uk/handle/1810/342736
