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  • Title: Metabolic myopathies: a clinical approach; part II.
    Author: Darras BT, Friedman NR.
    Journal: Pediatr Neurol; 2000 Mar; 22(3):171-81. PubMed ID: 10734246.
    Abstract:
    Major recent advances in the field of metabolic myopathies have helped delineate the genetic and biochemical basis of these disorders. This progress has also resulted in the development of new diagnostic and therapeutic methodologies. In this second part, we present an updated review of the main nonlysosomal and lysosomal glycogenoses and lipid metabolism defects that manifest with signs of transient or permanent muscle dysfunction. Our intent is to increase the pediatric neurologist's familiarity with these conditions and thus improve decision making in the areas of diagnosis and treatment.
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