Author:
Kristjansson K.,Finegold M. J.,Pentchev P. G.,Belmont J. W.
Publisher
Springer Science and Business Media LLC
Subject
Pediatrics, Perinatology, and Child Health
Reference25 articles.
1. Bazhenoy EI, Terekhov VZ, Fadeev A (1988) Infantile type of Niemann-Pick disease with developmental defects of the central nervous system. Arkh Patol 50:59–62
2. Planchette-Mackie EJ, Dwyer NK, Amende LM, Kruth HS, Butler JD, Sokol J, Comly ME, Vanier MT, August JT, Brady RO, Pentchev PG (1988) Type-C Niemann-Pick disease: Low density lipoprotein uptake is associated with premature cholesterol accumulation in the Golgi complex and excessive cholesterol storage in lysosomes. Proc Natl Acad Sci USA 85:8022–8026
3. Brady RO (1978) Sphingomyelin lipidosis: Niemann-Pick disease. In: Stanbury JB, Wyngaarden JB, Fredrickson DS (eds) The metabolic basis of inherited diseases, 4th edn. McGraw-Hill, New York, pp 718–730
4. 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 USA 55:366–369
5. Crocker AC (1961) The cerebral defect in Tay-Sachs disease and Niemann-Pick disease. J Neurochem 7:69–80
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