Results 11 to 20 of about 3,802,908 (215)
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 +4 more sources
Niemann Pick disease: a rare lysosomal storage disease [PDF]
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
doaj +3 more sources
Niemann-Pick Disease Type C [PDF]
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
doaj +2 more sources
Molecular basis for a new bovine model of Niemann-Pick type C disease. [PDF]
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
doaj +3 more sources
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
doaj +4 more sources
Risk Prediction for Niemann-Pick Disease [PDF]
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
doaj +2 more sources
Difficult diagnosis. Niemann - Pick disease, type C [PDF]
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
doaj +2 more sources
Lysosomal and Mitochondrial Liaisons in Niemann-Pick Disease [PDF]
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
doaj +5 more sources
Current advancements in therapy for Niemann-Pick disease: progress and pitfalls [PDF]
, 2023 INTRODUCTION Niemann-Pick disease type C (NPC) is a rare, autosomal recessive, lysosomal storage disorder. To combat the progressive neurodegeneration in NPC, disease-modifying treatment needs to be introduced early in the course of the disease.
Tatiana Bremova-Ertl +3 more
core +1 more source
Defective iron homeostasis and haematological abnormalities in Niemann-Pick disease type C1 [PDF]
, 2022 An investigation of iron-related parameters and haematological parameters in a mouse model of Niemann-Pick disease type C1 and in Niemann-Pick disease type C1 ...
Stephan Siebel +16 more
core +1 more source