Normal pubertal development in a female with carbohydrate deficient glycoprotein syndrome

Archives of Disease in Childhood

Volumn 74, Issue 3, 1996, Pages 242-243

  Pineda, M ^a,f   Pavia, C ^b   Vilaseca, M A ^a   Ferrer, I ^a   Temudo, T ^a   Chabas, A ^c   Stibler, H ^d   Jaeken, J ^e  

^a HOSPITAL SANT JOAN DE DÉU   (Spain)

^b U Integr Hosp St Joan Deu Clinic   (Spain)

^c Institute of Clinical Biochemistry   (Spain)

^d KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^e UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^f HOSPITAL UNIVERSITARI DE BELLVITGE   (Spain)

Author keywords

Carbohydrate deficient glycoprotein syndromes; Pubertal development; Sialotransferrins

Indexed keywords

ADOLESCENT; ARTICLE; CASE REPORT; CONGENITAL DISORDER OF GLYCOSYLATION; HUMAN; PRIORITY JOURNAL; PUBERTY;

EID: 0029913812     PISSN: 00039888     EISSN: 14682044     Source Type: Journal    
DOI: 10.1136/adc.74.3.242     Document Type: Article

References (7)

1. Jacken J, Carchon H, Stibler H. The carbohydrate-deficient glycoprotein syndromes. Pre-golgi and golgi disorders. Glycobiology 1993; 3: 423-8.
2. Stibler H, Blennow G, Kristiansson B, Lindehammer H, Hagberg B. Carbohydrate-deficient glycoprotein syndrome: clinical expression in adults with a new metabolic disease. J Neurol Neurosurg Psychiatry 1994; 57: 552-6.
3. de Zegher F, Jaeken J. Endocrinology of the carbohydrate-deficient glycoprotein syndrome type I from birth through adolescence. Pediatr Res 1995; 37: 395-401.
4. Kristiansson B, Stibler H, Wide L. Gonadal function and glycoprotein hormones in the carbohydrate-deficient (CDG) syndrome. Acta Paediatr 1995; 84: 655-60.
5. Stibler H, Jaeken J, Kristianson B. Biochemical characteristics and diagnosis of the carbohydrate-deficient glycoprotein syndrome. Acta Paediatr Scand 1991; 375 (suppl): 21-31.
6. Stibler H, Cederberg B. Diagnosis of the carbohydrate-deficient glycoprotein syndrome by analysis of transferrin in filter paper blood spots. Acta Paediatr 1993; 82: 55-9.
7. Martinsson T, Bjursell C, Stibler H, et al. Linkage of a locus for carbohydrate-deficient glycoprotein syndrome type I (CDG 1) to chromosome 16p, and linkage disequilibrium to microsatellite marker D16S406. Human and Molecular Genetics 1994; 3: 2037-42.