Tarui disease and distal glycogenoses: Clinical and genetic update

Acta Myologica

Volumn 26, Issue OCT., 2007, Pages 105-107

  Toscano, A ^a   Musumeci, O ^a  

^a UNIVERSITY OF MESSINA   (Italy)

Author keywords

Glycogen Storage Disease VII or GSD VII; Phosphofructokinase deficiency; Tarui disease

Indexed keywords

ALDOLASE A DEFICIENCY; ARTICLE; BETA ENOLASE DEFICIENCY; CHROMOSOME 12; CLINICAL FEATURE; DISEASE ASSOCIATION; ENZYME DEFICIENCY; EXERCISE TOLERANCE; GENE MUTATION; GLYCOGEN METABOLISM; GLYCOGEN STORAGE DISEASE; GLYCOGEN STORAGE DISEASE TYPE 7; HEMOLYTIC ANEMIA; HUMAN; HYPERURICEMIA; LACTATE DEHYDROGENASE DEFICIENCY; MOLECULAR GENETICS; MUSCLE BIOPSY; MUSCLE CRAMP; MUSCLE METABOLISM; MYOGLOBINURIA; PHOSPHOGLYCERATE KINASE DEFICIENCY; PHOSPHOGLYCERATE MUTASE DEFICIENCY; PROTEIN FUNCTION; RHABDOMYOLYSIS;

ANEMIA, HEMOLYTIC; EXERCISE TOLERANCE; FRUCTOSE-BISPHOSPHATE ALDOLASE; GLYCOGEN STORAGE DISEASE; GLYCOGEN STORAGE DISEASE TYPE VII; HUMANS; HYPERURICEMIA; L-LACTATE DEHYDROGENASE; MUSCLE CRAMP; MUTATION; MYOGLOBINURIA; PHOSPHOFRUCTOKINASES; PHOSPHOGLYCERATE KINASE; PHOSPHOGLYCERATE MUTASE; PHOSPHOPYRUVATE HYDRATASE; RHABDOMYOLYSIS;

EID: 39449113093     PISSN: 11282460     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (10)

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