title: State of the art in muscle glycogenoses.
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).
authors.affiliation: Department of Neurosciences, University of Padova, via Giustiniani 5, 35128 Padova, Italy. corrado.angelini@unipd.it
authors.forename: C
authors.initials: C
authors.lastname: Angelini
mesh_terms: D004035:Diet Therapy / Q000639:trends; D056947:Enzyme Replacement Therapy / Q000639:trends; D006008:Glycogen Storage Disease / Q000378:metabolism* / Q000628:therapy*; D006009:Glycogen Storage Disease Type II / Q000378:metabolism / Q000628:therapy; D006012:Glycogen Storage Disease Type V / Q000378:metabolism / Q000628:therapy; D006801:Humans; D018482:Muscle, Skeletal / Q000378:metabolism*