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. 2010 Oct;29(2):339-42.

State of the art in muscle glycogenoses

C Angelini  1
Affiliations

State of the art in muscle glycogenoses

C Angelini. Acta Myol. 2010 Oct.

Abstract

The recognition of a series of metabolic/enzymatic dysfunctions in glycogenoses has allowed new therapeutic advances for their treatment due to the development of recombinant enzyme. A recent advance appears enzymatic replacement therapy (ERT) in glycogenosis type II in both infantile, juvenile and adult form. Targeted manipulation of diet has been tried both in glycogenosis type II (Pompe disease) and type V (Mc Ardle disease).

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