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Pediatrics General 250e48a6

For which of the following diseases is enzyme replacement therapy available?

A
Albinism
B
Neimann-Pick disease
C
Metachromatic leukodystrophy
D
Gaucher's disease
High-Yield Explanation
Gaucher's disease is the first storage disorder for which the treatment became available. Cerezyme' a recombinantly produced acid b-glucosidase is being currently used. Ref: Harrison's Principles of Internal Medicine, 17th Edition, Page 2455 ; O P Ghai Essential Pediatrics, 6th Edition, Pages 616-617

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