Results 1 to 10 of about 15,260 (119)
Impact and burden of acid sphingomyelinase deficiency from a patient and caregiver perspective
Scientific Reports, 2021 Acid sphingomyelinase deficiency (ASMD), historically known as Niemann–Pick disease (NPD) types A, A/B, and B, is a rare, progressive, potentially fatal lysosomal storage disease with a spectrum of phenotypes.
Robin Pokrzywinski +7 more
doaj +1 more source
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
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
Orphanet Journal of Rare Diseases, 2022 Background Niemann-Pick Disease Type C (NPC) is an autosomal recessive rare disease characterised by progressive neurovisceral manifestations. The collection of on-going large-scale NPC clinical data may generate better understandings of the natural ...
Shaun C. Bolton +19 more
doaj +1 more source
Journal of Medical Case Reports, 2022 Background Niemann–Pick is a rare metabolic disease distinguished by lysosomal storage defects. This disease is characterized by sphingomyelinase acid deficiency, causing its accumulation in various organs such as the kidneys, spleen, liver, brain, and ...
Mohammad Barzegar +2 more
doaj +1 more source
Niemann-Pick Disease: Seven Questions about it
Вопросы современной педиатрии, 2023 Acid sphingomyelinase deficiency is a rare hereditary disease caused by enzyme deficiency due to mutations in the SMPD1 gene. Decreased enzyme activity leads to accumulation of sphingomyelin in lysosomes.
Nato D. Vashakmadze +1 more
doaj +1 more source
Niemann-Pick disease, type B with TRAP-positive storage cells and secondary sea blue histiocytosis
European Journal of Histochemistry, 2009 We present 2 cases of Niemann Pick disease, type B with secondary sea-blue histiocytosis. Strikingly, in both cases the Pick cells were positive for tartrate resistant acid phosphatase, a finding hitherto described only in Gaucher cells.
P. Sharma +4 more
doaj +3 more sources
Case Reports in Transplantation, 2022 Niemann-Pick disease is a rare autosomal recessive disease characterized by an abnormal intracellular lipid accumulation. Type B is later in onset and a less severe form of the disease, so affected people may survive in adulthood.
Víctor Manuel Mora +7 more
doaj +1 more source