Niemann-Pick type C fibroblasts are resistant against GalSph- and GlcSph-induced cell death. [PDF]
, 2022 (A-C) Death of fibroblasts from healthy controls or patients with Niemann-Pick type C disease (NPC) treated with indicated concentrations of GalSph (A), GlcSph (B), or ebastine (C) for 48 hours was determined as in Fig 1A.
Kamilla Stahl-Meyer (14149669) +7 more
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Plasma phosphorylated-tau217 is increased in Niemann-Pick disease type C. [PDF]
Brain CommunNiemann–Pick disease type C and Alzheimer’s disease are distinct neurodegenerative disorders that share the presence of neurofibrillary tangle pathology.
Gonzalez-Ortiz F +7 more
europepmc +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
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Niemann-Pick disease and hemophagocytic syndrome [PDF]
, 2012 Hemophagocytic syndromes represent a severe hyperinflammatory condition with the cardinal symptoms of prolonged fever, cytopenias, hepatosplenomegaly and hemophagocytosis induced by activated, morphologically benign macrophages.
KENDİRCİ, Mustafa +4 more
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Genetic disease and Niemann-Pick disorders: novel treatments and drug delivery systems [PDF]
, 2023 A large number of diseases result from mutation or alteration in the structure and function of genes. Niemann-Pick disease is a very rare autosomal recessive lysosomal storage disorder.
Dua, K +6 more
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Monitoring of pregnancies with successful deliveries in a Niemann-Pick disease type B patient - case report and literature review [PDF]
Srpski Arhiv za Celokupno Lekarstvo, 2023 Introduction. Niemann–Pick disease type B is an autosomal recessive disease caused by sphingomyelinase deficiency resulting in sphingomyelin accumulation in macrophages of various organs. Visceral involvement includes spleen enlargement, thrombocytopenia,
Agić Danijela +4 more
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LC-MS/MS multiplex analysis of lysosphingolipids in plasma and amniotic fluid: A novel tool for the screening of sphingolipidoses and Niemann-Pick type C disease. [PDF]
PLoS ONE, 2017 The biological diagnosis of sphingolipidoses currently relies on the measurement of specific enzymatic activities and/or genetic studies. Lysosphingolipids have recently emerged as potential biomarkers of sphingolipidoses and Niemann-Pick type C in ...
Magali Pettazzoni +12 more
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Mechanisms of Dysmyelination in Niemann-Pick Type C Disease [PDF]
, 2023 Lysosomal storage diseases (LSDs) are a group of over 70 inherited disorders that result in lysosomal dysfunction and accumulation of substrates. This lysosomal impairment leads to a variety of secondary effects within the cell including impaired ...
Kunkel, Thaddeus
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Niemann - Pick Disease Type B: A Case Report [PDF]
, 2018 Niemann-Pick disease is a rare lysosomal storage disease responsible for numerous cytological abnormalities involving liver, spleen, lymph nodes, nervous system, lungs and bone marrow.
Md Rukunuzzaman +3 more
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New therapies in the management of Niemann-Pick type C disease: clinical utility of miglustat [PDF]
, 2009 James E Wraith, Jackie ImrieWillink Biochemical Genetics Unit, Royal Manchester Children’s Hospital, Manchester, UKAbstract: Niemann-Pick disease type C (NP-C) is an autosomal recessive disorder characterized by progressive ...
Jackie Imrie +3 more
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