J Vodopiutz

Summary

Affiliation: Medical University of Vienna
Country: Austria

Publications

  1. pmc Homozygous SALL1 mutation causes a novel multiple congenital anomaly-mental retardation syndrome
    Julia Vodopiutz
    Department of Pediatrics and Adolescent Medicine, Medical University Vienna, Austria
    J Pediatr 162:612-7. 2013
  2. doi Congenital disorders of glycosylation--a challenging group of IEMs
    J Vodopiutz
    Division of Biochemical and Paediatric Genetics, Department of Paediatrics, University Children s Hospital Vienna, Vienna, Austria
    J Inherit Metab Dis 31:267-9. 2008

Detail Information

Publications2

  1. pmc Homozygous SALL1 mutation causes a novel multiple congenital anomaly-mental retardation syndrome
    Julia Vodopiutz
    Department of Pediatrics and Adolescent Medicine, Medical University Vienna, Austria
    J Pediatr 162:612-7. 2013
    ..To delineate a novel autosomal recessive multiple congenital anomaly-mental retardation (MCA-MR) syndrome in 2 female siblings of a consanguineous pedigree and to identify the disease-causing mutation...
  2. doi Congenital disorders of glycosylation--a challenging group of IEMs
    J Vodopiutz
    Division of Biochemical and Paediatric Genetics, Department of Paediatrics, University Children s Hospital Vienna, Vienna, Austria
    J Inherit Metab Dis 31:267-9. 2008
    ..In 2007 the expanding group of CDG is an enormous challenge to all specialists working in the field of IEMs. This review gives a brief overview about the expanded group of CDG and summarizes the main implications for clinicians...