Niemann-Pick disease type C
Author:
Publisher
Springer Science and Business Media LLC
Subject
Pharmacology (medical),Genetics(clinical),General Medicine
Link
http://link.springer.com/content/pdf/10.1186/1750-1172-5-16.pdf
Reference143 articles.
1. Crocker AC, Farber S: Niemann-Pick disease: a review of eighteen patients. Medicine (Baltimore). 1958, 37: 1-95. 10.1097/00005792-195802000-00001.
2. Crocker AC: The cerebral defect in Tay-Sachs disease and Niemann-Pick disease. J Neurochem. 1961, 7: 69-80. 10.1111/j.1471-4159.1961.tb13499.x.
3. Brady RO, Kanfer JN, Mock MB, Fredrickson DS: The metabolism of sphingomyelin. II. Evidence of an enzymatic deficiency in Niemann-Pick diseae. Proc Natl Acad Sci USA. 1966, 55: 366-369. 10.1073/pnas.55.2.366.
4. Pentchev PG, Boothe AD, Kruth HS, Weintroub H, Stivers J, Brady RO: A genetic storage disorder in BALB/C mice with a metabolic block in esterification of exogenous cholesterol. J Biol Chem. 1984, 259: 5784-5791.
5. Pentchev PG, Brady RO, Blanchette-Mackie EJ, Vanier MT, Carstea ED, Parker CC, Goldin E, Roff CF: The Niemann-Pick C lesion and its relationship to the intracellular distribution and utilization of LDL cholesterol. Biochim Biophys Acta. 1994, 1225: 235-243.
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