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Niemann-Pick disease type C [PDF]
Orphanet Journal of Rare Diseases, 2010 Niemann-Pick C disease (NP-C) is a neurovisceral atypical lysosomal lipid storage disorder with an estimated minimal incidence of 1/120 000 live births.
Vanier Marie T
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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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Niemann-Pick type C disease [PDF]
Journal of Lipid Research, 2002 We analyzed Niemann-Pick type C disease 1 (NP44406) gene in 12 patients with Niemann-Pick type C disease by sequencing both cDNA obtained from fibroblasts and genomic DNA. All the patients were compound heterozygotes.
Patrizia Tarugi +9 more
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EBioMedicine, 2016 Niemann Pick type C (NP-C) is a rare neurodegenerative disorder caused by an impairment of intracellular lipid transport. Due to the heterogeneous clinical phenotype and the lack of a reliable blood test, diagnosis and therapy are often delayed for years.
Janine Reunert +7 more
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A hopeful therapy for Niemann-Pick C diseases [PDF]
Lancet, The, 2017 Not abstract ...
Erickson, Robert P. +1 more
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Methyl-β-cyclodextrin restores impaired autophagy flux in Niemann-Pick C1-deficient cells through activation of AMPK [PDF]
Autophagy, 2017 Austin, Christopher P. +8 more
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Photomyogenic response in Niemann–Pick type C: a case report [PDF]
, 2010 Contains fulltext : 98214.pdf (publisher's version ) (Closed access)1 maart ...
A. Bour +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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Niemann-Pick C1 (NPC1)/NPC1-like1 Chimeras Define Sequences Critical for NPC1’s Function as a Filovirus Entry Receptor [PDF]
, 2012 We recently demonstrated that Niemann-Pick C1 (NPC1), a ubiquitous 13-pass cellular membrane protein involved in lysosomal cholesterol transport, is a critical entry receptor for filoviruses.
Chandran, Kartik +7 more
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