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Pediatrics Genetics of Common Disorders 1721d3b1

Enzyme replacement therapy is available for which of the following disorders?

A
Gaucher disease
B
Niemann Pick disease
C
Mucolipidosis
D
Metachromatic leukodystrophy
High-Yield Explanation
Ans. is 'a' i.e. Gaucher disease The t/t of choice for Gaucher's disease is enzyme replacement therapy. A recombinantly produced mannose terminated enzyme called cerezyme is used in the t/t of Gaucher's disease

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