Congenital disorders of glycosylation type Ia and Ib. Genetic, biochemical and clinical studies

MeSH terms

• Congenital Disorders of Glycosylation* / diagnosis
• Congenital Disorders of Glycosylation* / genetics
• Congenital Disorders of Glycosylation* / metabolism
• Congenital Disorders of Glycosylation* / therapy
• Genotype
• Humans
• Mannose / therapeutic use
• Mannose-6-Phosphate Isomerase / deficiency
• Mutation
• Phenotype
• Phosphotransferases (Phosphomutases) / deficiency
• Phosphotransferases (Phosphomutases) / genetics