Late adult-onset Niemann Pick type C (NPC): An “atypical” typical presentation at the age of 62
M Sousa, B Maamari, T Bremova… - … & related disorders, 2024 - prd-journal.com
We report a 67-year-old woman with a 5-year history of progressive walking and balance
difficulties with near-fall episodes. Gradually she also developed fine motor and speech …
difficulties with near-fall episodes. Gradually she also developed fine motor and speech …
[HTML][HTML] Deficiency of myeloid NPC1 exacerbates liver injury and fibrosis by impairing macrophage efferocytosis
D Guan, P Huang, X Liu, Q Li, X Zhang, N Liu… - Journal of Advanced …, 2024 - Elsevier
Abstract Introduction Niemann-Pick C1 (NPC1), a lysosomal cholesterol transport protein, is
required for efficient efferocytosis. Patients with Npc1 mutation are frequently accompanied …
required for efficient efferocytosis. Patients with Npc1 mutation are frequently accompanied …