Concepedia

Disorders of carbohydrate metabolism

Salvatore DiMauro, Orhan Akman, Arthur P. Hays

Handbook of clinical neurology · 2007 · 42 citations · 90 references

Concepts

Life SciencesBiochemistryPhysiologyCarbohydrate BiochemistryCarbohydrate ChemistryMetabolismCarbohydrate MetabolismCarbohydrate Metabolism DisordersCarbohydrate NutritionMetabolic DiseaseMetabolic DisordersMetabolic Pathway DefectsCarbohydrate MalabsorptionDisorders Of Carbohydrate UtilizationEnzyme Defects In Carbohydrate Digestion

References

90

Cochrane Database of Systematic Reviews

Steve Bell, J. Hill · Cochrane Database of Systematic Reviews · 2003 · 11.3K citations · Full text

Public Health, Biostatistics, Evidence-based Practice +13

A Mutation in <i>PRKAG3</i> Associated with Excess Glycogen Content in Pig Skeletal Muscle

Denis Milan, Jin‐Tae Jeon, Christian Looft et al. · Science · 2000 · 733 citations

Life Sciences, Genetics, Molecular Genetics +17

Glycogen Storage Diseases Presenting as Hypertrophic Cardiomyopathy

Michael Arad, Barry J. Maron, Joshua Gorham et al. · New England Journal of Medicine · 2005 · 646 citations

Medicine, Cardiology, Pathology +14

MYOPATHY DUE TO A DEFECT IN MUSCLE GLYCOGEN BREAKDOWN

Brian H. McArdle · The Medical Journal of Australia · 1951 · 596 citations

Medicine, Biochemistry, Pathobiology +6

Constitutively active AMP kinase mutations cause glycogen storage disease mimicking hypertrophic cardiomyopathy

Michael Arad, D. Woodrow Benson, Antonio R. Pérez‐Atayde et al. · Journal of Clinical Investigation · 2002 · 462 citations · Full text

Medicine, Cardiology, Genetics +13