Niemann–Pick disease type C1 presenting with psychosis in an adolescent male [PDF]
, 2009 Niemann–Pick disease, a neurovisceral lysosomal lipid storage disorder, is a rare disorder that is unknown to many clinicians. The disease, that often has its onset during childhood or adolescence, shows a polymorphic clinical picture, including ...
Bachmann, Christian +4 more
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Clinical observations of late infantile and juvenile forms of Niemann – Pick disease type C
Бюллетень сибирской медицины, 2017 A clinical description and analysis of cases of Niemann – Pick disease type C in two children are presented. The difficulty of the diagnosis is due to the polymorphism of clinical manifestations, variability in the age of manifestation, rarity of the ...
Irina F. Fedoseeva +3 more
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Dysphagia as a risk factor for mortality in Niemann-Pick disease type C: systematic literature review and evidence from studies with miglustat [PDF]
, 2014 Niemann-Pick disease type C (NP-C) is a rare neurovisceral disease characterised by progressive neurological deterioration and premature death, and has an estimated birth incidence of 1:120,000.
簡穎秀 +1 more
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Sphingomyelinase in normal human spleens and in spleens from subjects with Niemann-Pick disease
Journal of Lipid Research, 1967 This paper describes the purification and some of the properties of an enzyme from human spleen that catalyzes the hydrolysis of sphingomyelin with the formation of ceramide and phosphoryl choline.
Peter B. Schneider, Eugene P. Kennedy
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111. Miglustat in Niemann-Pick disease type C (NPC) [PDF]
, 2008 111.
Ed Wraith (15917000) +4 more
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Vitamin E and Niemann–Pick Disease Type C [PDF]
, 2015 How to Cite this Article: Rezayi AR. Vitamin E and Niemann–Pick Disease Type C. Iran J Child Neurol. 2015 Autumn;9:4(Suppl.1): 23.Pls see Pdf.
REZAYI, Alireza
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Promethean Parenting: the family of Niemann-Pick patients. [PDF]
, 2010 The Niemann-Pick is an autosomal, recessive, rare and with a variable genomic imprinting disease. It involves three phenotypicalities (MNP-A, MNP-B, MNP-C) that differ by age of onset, symptoms and complexity of prognosis with a rather linear maintenance
ACQUARINI, ELENA
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Niemann –Pick C Disease: Is It A Misnomenclature? [PDF]
, 2015 How to Cite This Article: Ahmadabadi F. Niemann –Pick C Disease: Is It A Misnomenclature. Iran J Child Neurol.
AHMADABADI, Farzad
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Clinical and genetic analysis of Niemann-Pick disease type C with a novel NPC1 variant
Journal of Rare DiseasesBackground Niemann-Pick disease type C poses a significant challenge within the landscape of rare genetic disorders, marked by its connection to variants in the NPC1 or NPC2 genes. This autosomal recessive lipid storage disorder unfolds with a relentless
Mostafa Neissi +6 more
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Cyclodextrin triggers MCOLN1-dependent endo-lysosome secretion in Niemann-Pick type C cells[S]
Journal of Lipid Research, 2019 In specialized cell types, lysosome-related organelles support regulated secretory pathways, whereas in nonspecialized cells, lysosomes can undergo fusion with the plasma membrane in response to a transient rise in cytosolic calcium. Recent evidence also
Fabrizio Vacca +8 more
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