Sphingomyelinases and the Genetic Defects in Niemann-Pick Disease
The Niemann-Pick Diseases (N-P) are clinically and biochemically heterogeneous. The common name is derived from the early work of Albert Niemann and Ludwig Pick who described the classical form in the years 1914–1928 (1) The first documented variation of these classical characteristics was described by Videbaek in 1949 (2) The latter patient was remarkable since no neurological impairment was found whereas all previous patients did show severe neurological degeneration. Later, in 1958, Crocker and Faber (3) described 18 patients with variable clinical expression and developed a classification which remains in use today (4) The features of each type of disease are shown in Table 1.
KeywordsPeak Versus Lysosomal Hydrolase Sphingomyelinase Activity Documented Variation Variable Clinical Expression
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