Congenital disorders of glycosylation type Ia and Ib. Genetic, biochemical and clinical studies.
Kjaergaard
Susanne
S
Department of Clinical Genetics, H:S Rigshospitalet, Copenhagen, Denmark.
D018981:Congenital Disorders of Glycosylation / Q000175:diagnosis / Q000235:genetics / Q000378:metabolism / Q000628:therapy; D005838:Genotype; D006801:Humans; D008358:Mannose / Q000627:therapeutic use; D008359:Mannose-6-Phosphate Isomerase / Q000172:deficiency; D009154:Mutation; D010641:Phenotype; D017875:Phosphotransferases (Phosphomutases) / Q000172:deficiency / Q000235:genetics
D008359:Mannose-6-Phosphate Isomerase; D017875:Phosphotransferases (Phosphomutases); C052799:phosphomannomutase; D008358:Mannose