Results 11 to 20 of about 48,564 (222)
A hopeful therapy for Niemann-Pick C diseases [PDF]
Lancet, The, 2017 Not abstract ...
Erickson, Robert P. +1 more
core +3 more sources
Tonic prime-boost of STING signalling mediates Niemann–Pick disease type C
Nature, 2021 Ting-ting Chu +5 more
semanticscholar +3 more sources
Methyl-β-cyclodextrin restores impaired autophagy flux in Niemann-Pick C1-deficient cells through activation of AMPK [PDF]
Autophagy, 2017 Austin, Christopher P. +8 more
core +4 more sources
Orphanet Journal of Rare Diseases, 2022 Background Major challenges to health care access include low health insurance literacy, prohibitive costs, and insurance barriers. Niemann–Pick disease (NPD), comprising acid sphingomyelinase deficiency (ASMD) and Niemann–Pick type C (NPC), is a group ...
George A. Diaz +2 more
doaj +1 more source
Niemann-Pick disease type C with kidney involvement
Human Pathology: Case Reports, 2021 Niemann-Pick disease type C is a lysosomal storage disease characterized by defects in lipid trafficking, typically involving the liver, spleen, and central nervous system. Only rare reports of renal involvement of Niemann-Pick disease have been reported
Aanand A. Patel +2 more
doaj +1 more source
npj Genomic Medicine, 2023 Niemann-Pick type C (NPC) disease is a lysosomal storage disease (LSD) characterized by the buildup of endo-lysosomal cholesterol and glycosphingolipids due to loss of function mutations in the NPC1 and NPC2 genes.
Macarena Las Heras +6 more
semanticscholar +1 more source
Impacts and Burden of Niemann pick Type-C: a patient and caregiver perspective
Orphanet Journal of Rare Diseases, 2021 Background Niemann-Pick disease type C (NPC) is a debilitating condition that impacts patients’ and caregivers’ quality of life (QOL) and reduces the patient’s life expectancy.
Eugen Mengel +9 more
doaj +1 more source
Case Report: Be Aware of “New” Features of Niemann–Pick Disease: Insights From Two Pediatric Cases
Frontiers in Genetics, 2022 Niemann–Pick disease is a relatively common lysosomal storage disease. Cholestatic liver disease is a typical clinical phenotype of Niemann–Pick disease in infancy. The diagnosis is traditionally based on Niemann–Pick cells in bone marrow smears or liver
Fan Chen +9 more
doaj +1 more source
Impact of Intravenous Trehalose Administration in Patients with Niemann–Pick Disease Types A and B
Journal of Clinical Medicine, 2022 Background and Aims: Niemann–Pick disease (NPD) types A (NPA) and B (NPB) are caused by deficiency of the acid sphingomyelinase enzyme, which is encoded by the SMPD1 gene, resulting in progressive pathogenic accumulation of lipids in tissues.
M. Mobini +14 more
semanticscholar +1 more source