Results 11 to 20 of about 21,027 (214)
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
Serap Karaman, Tiraje Celkan
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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. The Niemann‐Pick type C1 (NPC1) disease is one of the neurodegenerative diseases, caused by a mutation of NPC1 gene which affects
Kim, Sun-Jung +2 more
openaire +3 more sources
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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Niemann Pick disease: a rare lysosomal storage disease
Bangabandhu Sheikh Mujib Medical University Journal, 2023 Niemann Pick Disease (NPD) is a rare autosomal recessive lysosomal storage disease characterized by lysosomal lipid storage. The disease is caused by deficiency of enzyme, acid sphingomyelinase (ASM) which leads to accumulation of sphingomyelin & other ...
Gopen Kumar Kundu +8 more
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Pediatric Neurology Briefs, 1989 The neurologic symptomatology in 22 patients with Niemann-Pick disease type C have been analyzed and reported from the Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health ...
J Gordon Millichap
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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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Niemann - Pick disease associated with hemophagocytic syndrome
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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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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Risk Prediction for Niemann-Pick Disease
Pediatric Neurology Briefs, 2012 A retrospective chart review of 216 patients with Niemann-Pick disease type C (NP-C) was conducted in 5 centers in Europe including University of Amsterdam and 2 in Australia.
J Gordon Millichap
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Lysosomal and Mitochondrial Liaisons in Niemann-Pick Disease
Frontiers in Physiology, 2017 Lysosomal storage disorders (LSD) are characterized by the accumulation of diverse lipid species in lysosomes. Niemann-Pick type A/B (NPA/B) and type C diseases Niemann-Pick type C (NPC) are progressive LSD caused by loss of function of distinct ...
Sandra Torres +10 more
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