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Case Reports

. 2006 Aug;77(8):997-8.

doi: 10.1136/jnnp.2005.086785.

Niemann-Pick type C disease in a 68-year-old patient

G Trendelenburg, M T Vanier, S Maza, G Millat, G Bohner, D L Munz, R Zschenderlein

PMID: 16844962
PMCID: PMC2077625
DOI: 10.1136/jnnp.2005.086785

Case Reports

Niemann-Pick type C disease in a 68-year-old patient

G Trendelenburg et al. J Neurol Neurosurg Psychiatry. 2006 Aug.

. 2006 Aug;77(8):997-8.

doi: 10.1136/jnnp.2005.086785.

Authors

G Trendelenburg, M T Vanier, S Maza, G Millat, G Bohner, D L Munz, R Zschenderlein

PMID: 16844962
PMCID: PMC2077625
DOI: 10.1136/jnnp.2005.086785

No abstract available

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References

1. Vanier M T, Millat G. Niemann‐Pick disease type C. Clin Genet 200364269–281. - PubMed
1. Patterson M C. A riddle wrapped in a mystery: understanding Niemann‐Pick disease, type C. Neurologist 20039301–310. - PubMed
1. Klünemann H H, Ibach B, Guerlach G.et al Neurologic, psychiatric and neuropsychologic evaluation combined with F‐18‐fluorodeoxyglucose (FDG)‐PET neuroimaging in adult patients with Niemann‐Pick disease type C. Ann Neurol 200150S61
1. Lachmann R H, te Vruchte D, Lloyd‐Evans E.et al Treatment with miglustat reverses the lipid‐trafficking defect in Niemann‐Pick disease type C. Neurobiol Dis 200416654–658. - PubMed
1. Cox T M. Substrate reduction therapy for lysosomal storage diseases. Acta Paediatr Suppl 20059469–75. - PubMed

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