Funder
National Basic Research Program of China
National Natural Science Foundation of China
Publisher
Springer Science and Business Media LLC
Subject
Psychiatry and Mental health,Neurology (clinical),Dermatology,General Medicine
Reference25 articles.
1. Brady RO, Kanfer JN, Mock MB, Fredrickson DS (1966) The metabolism of sphingomyelin II. Evidence of an enzymatic deficiency in Niemann-Pick disease. Proc Natl Acad Sci U S A. 55(2):366–9. https://doi.org/10.1073/pnas.55.2.366
2. Vanier MT, Duthel S, Rodriguez-Lafrasse C, Pentchev P, Carstea ED (1996) Genetic heterogeneity in Niemann-Pick C disease: a study using somatic cell hybridization and linkage analysis. Am J Hum Genet 58(1):118–125
3. Vanier MT (2013) Niemann-Pick diseases. Handb Clin Neurol 113:1717–1721. https://doi.org/10.1016/b978-0-444-59565-2.00041-1
4. Solomon D, Winkelman AC, Zee DS, Gray L, Büttner-Ennever J (2005) Niemann-Pick type C disease in two affected sisters: ocular motor recordings and brain-stem neuropathology. Ann N Y Acad Sci 1039:436–445. https://doi.org/10.1196/annals.1325.041
5. Morris JA, Zhang D, Coleman KG, Nagle J, Pentchev PG, Carstea ED (1999) The genomic organization and polymorphism analysis of the human Niemann-Pick C1 gene. Biochem Biophys Res Commun 261(2):493–498. https://doi.org/10.1006/bbrc.1999.1070
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