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References

These sources were used to develop the Genetics Home Reference condition summary on Niemann-Pick disease.

Garver WS, Francis GA, Jelinek D, Shepherd G, Flynn J, Castro G, Walsh Vockley C, Coppock DL, Pettit KM, Heidenreich RA, Meaney FJ. The National Niemann-Pick C1 disease database: report of clinical features and health problems. Am J Med Genet A. 2007 Jun 1;143A(11):1204-11. PubMed citation
Guillemot N, Troadec C, de Villemeur TB, Clément A, Fauroux B. Lung disease in Niemann-Pick disease. Pediatr Pulmonol. 2007 Dec;42(12):1207-14. PubMed citation
McGovern MM, Aron A, Brodie SE, Desnick RJ, Wasserstein MP. Natural history of Type A Niemann-Pick disease: possible endpoints for therapeutic trials. Neurology. 2006 Jan 24;66(2):228-32. PubMed citation
Ory DS. The niemann-pick disease genes; regulators of cellular cholesterol homeostasis. Trends Cardiovasc Med. 2004 Feb;14(2):66-72. Review. PubMed citation
Paul CA, Boegle AK, Maue RA. Before the loss: neuronal dysfunction in Niemann-Pick Type C disease. Biochim Biophys Acta. 2004 Oct 11;1685(1-3):63-76. Review. PubMed citation
Sévin M, Lesca G, Baumann N, Millat G, Lyon-Caen O, Vanier MT, Sedel F. The adult form of Niemann-Pick disease type C. Brain. 2007 Jan;130(Pt 1):120-33. Epub 2006 Sep 26. Review. PubMed citation
Simonaro CM, Park JH, Eliyahu E, Shtraizent N, McGovern MM, Schuchman EH. Imprinting at the SMPD1 locus: implications for acid sphingomyelinase-deficient Niemann-Pick disease. Am J Hum Genet. 2006 May;78(5):865-70. Epub 2006 Mar 14. PubMed citation
Sturley SL, Patterson MC, Balch W, Liscum L. The pathophysiology and mechanisms of NP-C disease. Biochim Biophys Acta. 2004 Oct 11;1685(1-3):83-7. Review. PubMed citation
Vance JE. Lipid imbalance in the neurological disorder, Niemann-Pick C disease. FEBS Lett. 2006 Oct 9;580(23):5518-24. Epub 2006 Jun 15. Review. PubMed citation
Verot L, Chikh K, Freydière E, Honoré R, Vanier MT, Millat G. Niemann-Pick C disease: functional characterization of three NPC2 mutations and clinical and molecular update on patients with NPC2. Clin Genet. 2007 Apr;71(4):320-30. PubMed citation
Walkley SU, Suzuki K. Consequences of NPC1 and NPC2 loss of function in mammalian neurons. Biochim Biophys Acta. 2004 Oct 11;1685(1-3):48-62. Review. PubMed citation
Wasserstein MP, Desnick RJ, Schuchman EH, Hossain S, Wallenstein S, Lamm C, McGovern MM. The natural history of type B Niemann-Pick disease: results from a 10-year longitudinal study. Pediatrics. 2004 Dec;114(6):e672-7. Epub 2004 Nov 15. PubMed citation


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