Add to ORKGNiemann–Pick disease type C (NPC) is a fatal neurovisceral lipid storage disease of autosomal inheritance resulting frommutations in either theNPC1 (95 % of families) orNPC2 gene. The encoded proteins appear to be involved in lysosomal/late endosomal transport of cholesterol, glycolipids and other molecules but their exact function is still unknown. The clinical spectrum of the disease ranges from a neonatal rapidly fatal disorder to an adult-onset chronic neurodegenerative disease. Based upon a comprehensive study of 13 unrelated adult patients diagnosed in France over the past 20 years as well as the analysis of the 55 other cases published since 1969, we have attempted to delineate the major clinical, radiological, biochemical and genoty...
Niemann-Pick disease type C (NP-C) is a lysosomal storage disease in which impaired intracellular li...
Niemann-Pick type C (NP-C) disease is a neurovisceral disorder caused by mutations in the NPC1 and N...
Niemann-Pick Type C (NPC) is a progressive and life limiting autosomal recessive disorder caused by ...
Niemann–Pick disease type C (NPC) is a fatal neurovisceral lipid storage disease of autosomal inheri...
Niemann–Pick disease type C (NP-C) is a rare inherited neurovisceral disease caused by mutations in ...
Abstract Niemann-Pick disease type C (NP-C) is a rare autosomal-recessive neurovisceral lysosomal st...
Abstract Background Niemann–Pick disease type C (NPC) is an autosomal recessive, neurodegenerative d...
Background: Niemann-Pick disease type C (NP-C), derived from mutation of the NPC1 or NPC2 gene, is o...
Niemann-Pick type C disease (NPC) is a rare autosomal recessive lipid storage disorder caused by imp...
Niemann–Pick disease type C (NPC) is a rare autosomal recessive lysosomal storage disorder with exte...
Niemann–Pick disease type C (NP-C) is a hereditary neuro-visceral lipid storage disorder (Vanier and...
In patients with Niemann–Pick disease type C (NPC), an autosomal recessive lipid storage disorder, n...
Niemann-Pick type C disease (NPC) is a rare autosomal recessive lipid storage disorder caused by imp...
Niemann–Pick disease type C (NP-C) is a rare, autosomal-recessive, progressive neurological disease ...
Niemann-Pick disease type C (NPC) is a rare autosomal recessive lysosomal storage disorder with exte...
Niemann-Pick disease type C (NP-C) is a lysosomal storage disease in which impaired intracellular li...
Niemann-Pick type C (NP-C) disease is a neurovisceral disorder caused by mutations in the NPC1 and N...
Niemann-Pick Type C (NPC) is a progressive and life limiting autosomal recessive disorder caused by ...
Niemann–Pick disease type C (NPC) is a fatal neurovisceral lipid storage disease of autosomal inheri...
Niemann–Pick disease type C (NP-C) is a rare inherited neurovisceral disease caused by mutations in ...
Abstract Niemann-Pick disease type C (NP-C) is a rare autosomal-recessive neurovisceral lysosomal st...
Abstract Background Niemann–Pick disease type C (NPC) is an autosomal recessive, neurodegenerative d...
Background: Niemann-Pick disease type C (NP-C), derived from mutation of the NPC1 or NPC2 gene, is o...
Niemann-Pick type C disease (NPC) is a rare autosomal recessive lipid storage disorder caused by imp...
Niemann–Pick disease type C (NPC) is a rare autosomal recessive lysosomal storage disorder with exte...
Niemann–Pick disease type C (NP-C) is a hereditary neuro-visceral lipid storage disorder (Vanier and...
In patients with Niemann–Pick disease type C (NPC), an autosomal recessive lipid storage disorder, n...
Niemann-Pick type C disease (NPC) is a rare autosomal recessive lipid storage disorder caused by imp...
Niemann–Pick disease type C (NP-C) is a rare, autosomal-recessive, progressive neurological disease ...
Niemann-Pick disease type C (NPC) is a rare autosomal recessive lysosomal storage disorder with exte...
Niemann-Pick disease type C (NP-C) is a lysosomal storage disease in which impaired intracellular li...
Niemann-Pick type C (NP-C) disease is a neurovisceral disorder caused by mutations in the NPC1 and N...
Niemann-Pick Type C (NPC) is a progressive and life limiting autosomal recessive disorder caused by ...