S. Kjaergaard
Department of Clinical Genetics
Rigshospitalet
University Hospital of Copenhagen
Denmark
Name/email consistency: low
- Prepubertal growth in congenital disorder of glycosylation type Ia (CDG-Ia). Kjaergaard, S., Müller, J., Skovby, F. Arch. Dis. Child. (2002)
- Congenital disorder of glycosylation type Ia (CDG-Ia): phenotypic spectrum of the R141H/F119L genotype. Kjaergaard, S., Schwartz, M., Skovby, F. Arch. Dis. Child. (2001)
- Carbohydrate-deficient glycoprotein syndrome type 1A: expression and characterisation of wild type and mutant PMM2 in E. coli. Kjaergaard, S., Skovby, F., Schwartz, M. Eur. J. Hum. Genet. (1999)