The skeletal manifestations of the congenital disorders of glycosylation

Clinical Genetics

Volumn 73, Issue 6, 2008, Pages 507-515

  Coman, D ^a   Irving, M ^a,b   Kannu, P ^a,b   Jaeken, J ^c   Savarirayan, Ravi ^a,b,d  

^a Genetic Health Services Victoria   (Australia)

^b ROYAL CHILDREN'S HOSPITAL   (Australia)

^c UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^d UNIVERSITY OF MELBOURNE   (Australia)

Author keywords

Collagen; Congenital disorder of glycosylation; Osteopaenia; Skeletal dysplasia

Indexed keywords

BONE DISEASE; CLINICAL FEATURE; CONGENITAL DISORDER OF GLYCOSYLATION; CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1; CONGENITAL DISORDER OF GLYCOSYLATION TYPE 2; HEART DISEASE; HUMAN; KIDNEY DISEASE; LIVER DISEASE; MORBIDITY; MORTALITY; NEUROLOGIC DISEASE; OSTEOPENIA; PATHOPHYSIOLOGY; PHENOTYPE; PRIORITY JOURNAL; REVIEW;

BONE DISEASES, METABOLIC; CARBOHYDRATE METABOLISM, INBORN ERRORS; CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME; GLYCOSYLATION; HUMANS; MUSCULOSKELETAL SYSTEM; PHENOTYPE;

PROTEA;

EID: 43449103089     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2008.01015.x     Document Type: Review

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