- MED20 mutation associated with infantile basal ganglia degeneration and brain atrophyJulia 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...
- Homozygous SALL1 mutation causes a novel multiple congenital anomaly-mental retardation syndromeJulia 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...
- Congenital disorders of glycosylation--a challenging group of IEMsJ 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...