Synthetic high-density lipoprotein nanoparticles for the treatment of Niemann–Pick diseases [PDF]
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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Stem cells in Niemann-Pick disease [PDF]
Disease Markers, 2008 Neural stem cells are multi-potent and able to self renew to maintain its character throughout the life. Loss of self renewal ability of stem cells prevents recovery or replacement of cells damaged by disease with new cells.
Kim, Sun-Jung +2 more
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Priapism associated with Niemann-Pick disease in a 15-year-old boy
Indian Journal of Urology, 2011 A 15-year-old boy presented with priapism of 46 h duration. There was no known cause of priapism detected in him. During evaluation, biopsy of the lymph node and bone marrow aspiration detected patient to be having Niemann-Pick disease.
M V Krishna Shetty +2 more
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Difficult diagnosis. Niemann - Pick disease, type C
Медицинский совет, 2014 Modern diagnostic capabilities and improved medical knowledge allow to detect more diseases that were previously considered extremely rare. Along with the achievements of the pharmaceutical industry, timely diagnosis and adequate therapy often save the ...
L. S. Namazova-baranova +5 more
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Niemann - Pick disease associated with hemophagocytic syndrome [PDF]
Turkish Journal of Hematology, 2010 Hemophagocytic lymphohistiocytosis (HLH) is a disease characterized by phagocytosis of blood cells by macrophages within the lymphoreticular tissue. It can develop secondary to some diseases or be familial as a result of genetic mutations.
Serap Karaman +3 more
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Aspectes moleculars de dues malalties de transport lisosòmic: la cistinosi i la malaltia de Niemann-Pick tipus C [PDF]
, 2012 [cat] La cistinosi i la malaltia de Niemann-Pick tipus C (NPC) són dues patologies hereditàries monogèniques poc freqüents, per aquest motiu estan classificades dins del grup de malalties anomenades rares.
Macías Vidal, Judit
core +7 more sources
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
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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
Turkish Journal of Hematology, 2011 doi:10.5152/tjh.2011.15 The peripheral blood smear is an easy, inexpensive, and very useful diagnostic method. Although some think that it has lost its importance following the development of new automated complete blood counts, the peripheral blood smear should remain a primary diagnostic tool for clinicians, especially pediatricians. Peripheral blood
Celkan, Tiraje, Karaman, Serap
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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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