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storage diseases


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Diseases in which there is a deficiency of a lysosomal enzyme and undigested substrate for that enzyme accumulates within cells. The storage diseases are not immediately fatal, but within a few years some can cause serious neurological and skeletal disorders leading eventually to death. See the following diseases or syndromes: Batten's; cystinosis; Danon's; Fabry's; Farber's; Gaucher's; Hers's; Hunter's; Hurler's; liposes (see lipid disorders); McArdle's; mannosidosis; Morquio-Brailsford; mucopolysaccharidoses; Niemann–Pick; Pompe's; Sanfillipos's; Salla; Sandhoff's; Scheie's; Sly; Tay–Sachs. See also glycogen storage diseases.

Subjects: Medicine and Health.


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