Diagnostic workup and management of patients with suspected Niemann-Pick type C disease.

@article{Papandreou2016DiagnosticWA,
  title={Diagnostic workup and management of patients with suspected Niemann-Pick type C disease.},
  author={Apostolos Papandreou and Paul Gissen},
  journal={Therapeutic advances in neurological disorders},
  year={2016},
  volume={9 3},
  pages={
          216-29
        }
}
Niemann-Pick type C (NP-C) disease is a neurovisceral disorder caused by mutations in the NPC1 and NPC2 genes. It is characterized by lysosomal storage of a broad range of lipids as a result of abnormal intracellular lipid trafficking. Typically patients develop neurodegeneration; however, the speed of disease progression is variable. The exact functions of NPC1 and NPC2 proteins have not been determined and therefore the molecular pathophysiology of NP-C is still not clearly understood. Due to… CONTINUE READING
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