Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Robert, Schuck"'
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-16 (2024)
Abstract Niemann-Pick disease type C (NPC) is an autosomal recessive, progressive disorder resulting from variants in NPC1 or NPC2 that leads to the accumulation of cholesterol and other lipids in late endosomes and lysosomes. The clinical manifestat
Externí odkaz:
https://doaj.org/article/54c24adfdb8243819932abea70803bed
Autor:
Ruo-Jing, Li, Lian, Ma, Fang, Li, Liang, Li, Youwei, Bi, Ye, Yuan, Yangbing, Li, Yuan, Xu, Xinyuan, Zhang, Jiang, Liu, Venkatesh Atul, Bhattaram, Jie, Wang, Robert, Schuck, Michael, Pacanowski, Hao, Zhu
Publikováno v:
The Journal of Clinical Pharmacology. 62
A rare disease is defined as a condition affecting fewer than 200 000 people in the United States by the Orphan Drug Act. For rare diseases, it is challenging to enroll a large number of patients and obtain all critical information to support drug ap
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::90b66e39e548e9b5c02d46d095608148
https://doi.org/10.1002/jcph.2143
https://doi.org/10.1002/jcph.2143