J Vodopiutz

Summary

Affiliation: Medical University of Vienna
Country: Austria

Publications

  1. ncbi MED20 mutation associated with infantile basal ganglia degeneration and brain atrophy
    Julia Vodopiutz
    Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Wahringer Gurtel 18 20, 1090, Wien, Austria
    Eur J Pediatr 174:113-8. 2015
  2. 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
  3. ncbi 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

Publications3

  1. ncbi MED20 mutation associated with infantile basal ganglia degeneration and brain atrophy
    Julia Vodopiutz
    Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Wahringer Gurtel 18 20, 1090, Wien, Austria
    Eur J Pediatr 174:113-8. 2015
    ..No further MED20 mutations were detected in this study...
  2. 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...
  3. ncbi 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...