Galactose supplementation in phosphoglucomutase-1 deficiency; review and outlook for a novel treatable CDG

Medicine & Life Sciences

• Glycogen Storage Disease XIV 100%
• Galactose 52%
• Glycosylation 14%
• Transferrin 10%
• Glycolysis 10%
• Glucose 9%
• Phosphoglucomutase 7%
• Compassionate Use Trials 7%
• Uridine Diphosphate Glucose 7%
• Uvula 7%
• Inborn Errors Metabolism 6%
• Cleft Palate 5%
• Enzymes 5%
• Intelligence 5%
• Glycogen 4%
• Liver 4%
• Cardiomyopathies 4%
• Sugars 4%
• Hypoglycemia 4%
• Hypoglycemic Agents 4%
• Mass Spectrometry 4%
• Carbohydrates 4%
• Multicenter Studies 4%
• Phosphates 4%
• Fasting 3%
• Fibroblasts 3%
• Heart 3%
• Muscles 2%
• Phenotype 2%
• Growth 2%
• Serum 2%
• In Vitro Techniques 2%
• Therapeutics 1%

Chemical Compounds

• Galactose 49%
• Glycosylation 20%
• Galactosylation 10%
• Pharmacological Metabolism 10%
• Glucose 10%
• Antidiabetic Agent 8%
• Glycogen 8%
• Carbohydrate 5%
• Protein 5%
• Dose 5%
• Error 5%
• Mass Spectrometry 4%
• Phosphate 4%