Results 11 to 20 of about 14,662 (177)
Types A and B Niemann-Pick disease [PDF]
Molecular Genetics and Metabolism, 2017 The eponym Niemann-Pick disease (NPD) refers to a group of patients who present with varying degrees of lipid storage and foam cell infiltration in tissues, as well as overlapping clinical features including hepatosplenomegaly, pulmonary insufficiency and/or central nervous system (CNS) involvement.
Edward H, Schuchman, Robert J, Desnick
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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
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Molecular basis for a new bovine model of Niemann-Pick type C disease.
PLoS ONE, 2020 Niemann-Pick type C disease is a lysosomal storage disease affecting primarily the nervous system that results in premature death. Here we present the first report and investigation of Niemann-Pick type C disease in Australian Angus/Angus-cross calves ...
Shernae A Woolley +16 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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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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Orphanet Journal of Rare Diseases, 2021 Background Acid sphingomyelinase deficiency (ASMD) (also known as Niemann-Pick disease types A and B) is a rare and debilitating lysosomal storage disorder.
Margaret M. McGovern +7 more
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A case of Niemann – Pick disease type C
Неврология, нейропсихиатрия, психосоматика, 2013 The paper describes a clinical case of a 27-year-old female patient with Niemann – Pick disease type C (NPC), a rare inherited orphan disease, belonging to a group of lipid storage diseases.
Sergei Anatolyevich Klyushnikov +2 more
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Cholesterol in Niemann–Pick Type C disease [PDF]
, 2010 Niemann-Pick Type C (NPC) disease is associated with accumulation of cholesterol and other lipids in late endosomes/lysosomes in virtually every organ; however, neurodegeneration represents the fatal cause for the disease. Genetic analysis has identified loss-of-function mutations in NPC1 and NPC2 genes as the molecular triggers for the disease ...
Xiaoning, Bi, Guanghong, Liao
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Synthetic high-density lipoprotein nanoparticles for the treatment of Niemann–Pick diseases
BMC Medicine, 2019 Background Niemann–Pick disease type C is a fatal and progressive neurodegenerative disorder characterized by the accumulation of unesterified cholesterol in late endosomes and lysosomes.
Mark L. Schultz +16 more
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Nutrition management of Niemann Pick disease type C: A case report
Endocrine Regulations, 2021 Objectives. We aim to report the clinical repercussions of a nutritional approach in a patient diagnosed with Niemann Pick disease type C (NPC) using miglustat as pharmacological therapy.
Viana dos Santos Rejane +4 more
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