Results 171 to 180 of about 12,273 (193)
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2014
Niemann-Pick type C is a neurodegenerative disease, due to lipid storage with intracellular lipid trafficking, due to a deficiency of sphingomyelinase. Although the lesion occurs throughout the central nervous system, certain regions are more susceptible.
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Niemann-Pick type C is a neurodegenerative disease, due to lipid storage with intracellular lipid trafficking, due to a deficiency of sphingomyelinase. Although the lesion occurs throughout the central nervous system, certain regions are more susceptible.
openaire +1 more source
Lung involvement in Niemann-Pick disease type C1: improvement with bronchoalveolar lavage
Neurological Sciences, 2005Progressive lung infiltration is a major cause of death in Niemann-Pick disease type A and B (NPA, NPB) and in the recently defined type C2. In type C1 (NPC1), the main manifestations are neurological. We report a patient with a classic, neurological, late infantile form of NPC1 disease, carrying the mutation P474L and the variant I642M in the NPC1 ...
PALMERI S. +10 more
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Gene Therapy Moves Forward for Niemann–Pick Disease Type C1
Human Gene Therapy, 2021openaire +2 more sources
Niemann–Pick type C1—A primary sphingosine storage disease?
Chemistry and Physics of Lipids, 2007Emyr Lloyd-Evans, Fran Platt
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Tonic prime-boost of STING signalling mediates Niemann–Pick disease type C
Nature, 2021Xintao Tu, Kun Yang, Jianjun Wu
exaly
Structural Insight into Eukaryotic Sterol Transport through Niemann-Pick Type C Proteins
Cell, 2019Mikael Becher Lykkegaard Winkler +2 more
exaly
Improved disease amelioration with combination therapy for Niemann-Pick disease type C1
Molecular Genetics and Metabolism, 2019Cristin Davidson +7 more
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