Journal article

The skeletal manifestations of the congenital disorders of glycosylation

D Coman, M Irving, P Kannu, J Jaeken, R Savarirayan

Clinical Genetics | WILEY | Published : 2008

DOI: 10.1111/j.1399-0004.2008.01015.x

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31Web of Science
34Scopus

Keywords

Congenital Disorder of Glycosylation
Bone Diseases, Metabolic
Phenotype
Science & Technology
Musculoskeletal System
Heparan-Sulfate
Mutation
Deficient Glycoprotein Syndrome
Protein Glycosylation
Genetics & Heredity
Osteopaenia
Cdg-Ig
Skeletal Dysplasia
Genetic-Defects
Humans
Collagen
Posttranslational Modifications
Life Sciences & Biomedicine
Ehlers-Danlos-Syndrome
Glycosylation
Congenital Disorders of Glycosylation
Disease
Growth-Retardation
Carbohydrate Metabolism, Inborn Errors