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Niemann—Pick type C disease in a child
Zhurnal nevrologii i psikhiatrii im. S.S. Korsakova, 2017The authors consider a clinical case of Niemann-Pick disease type C, an orphan hereditary autosomal recessive neurodegenerative disease belonging to the group of lysosomal storage disease, in an 11-year female patient with the late infantile form of the disease.
E S, Novikova +5 more
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Niemann-Pick Disease Type C and Crohn's Disease
Scottish Medical Journal, 2005A five year old girl with Neimann-Pick disease type C subsequently developed Crohn's Disease. This association has only been presented once previously in the literature. This report discusses the options for managing one chronic disease in the presence of another life limiting condition.
L C, Steven, C P, Driver
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Spiral analysis in Niemann‐Pick disease type C
Movement Disorders, 2009AbstractSpiral analysis is a computerized method of analyzing upper limb motor physiology through the quantification of spiral drawing. The objective of this study was to determine whether spirals drawn by patients with Niemann‐Pick disease type C (NPC) could be distinguished from those of controls, and to physiologically characterize movement ...
Hsu, Annie W. +6 more
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NEUROFIBRILLARY TANGLES IN NIEMANN-PICK DISEASE TYPE C
Journal of Neuropathology and Experimental Neurology, 1995Post-mortem neuropathological examination of five cases of Niemann-Pick disease type C revealed neurofibrillary tangles in many parts of the brain. Tangles were a consistent finding in the hippocampus, hypothalamus, substantia innominata, midbrain pons and medulla.
S, Love, L R, Bridges, C P, Case
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Neuropathology of Various Types of Niemann-Pick Disease
1981A comparative neuropathological and histochemical study was performed on the brains of seven cases of NPD. In type A (two cases), besides the neuronal storage of SM, a widespread endothelial storage of a neutral glycosphingolipid was found. In one case a pseudosystemic lesion of the pallido-nigral system was observed.
M, Elleder, A, Jirásek
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2016
Niemann-Pick disease type B (NPDB) is caused by deficient activity of sphingomyelin phosphodiesterase leading to the accumulation of sphingomyelin and other lipids, primarily within macrophages. The disease is characterised by hepatosplenomegaly, a bleeding tendency, interstitial lung disease and an atherogenic lipid profile.
Tarekegn Geberhiwot, Carla E. M. Hollak
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Niemann-Pick disease type B (NPDB) is caused by deficient activity of sphingomyelin phosphodiesterase leading to the accumulation of sphingomyelin and other lipids, primarily within macrophages. The disease is characterised by hepatosplenomegaly, a bleeding tendency, interstitial lung disease and an atherogenic lipid profile.
Tarekegn Geberhiwot, Carla E. M. Hollak
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Niemann-Pick disease type B in pregnancy
Obstetrics & Gynecology, 1997K B, Porter, D, Diebel, A, Jazayeri
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Impact of Intravenous Trehalose Administration in Patients with Niemann–Pick Disease Types A and B
Journal of Clinical Medicine, 2022Seyed Javad Sayedi +2 more
exaly
Gene Therapy in a Mouse Model of Niemann–Pick Disease Type C1
Human Gene Therapy, 2021Tatsushi Onaka +2 more
exaly