Affiliation: Paracelsus Private Medical University
- [Menkes' disease: heterozygosity testing by quantitative real-time PCR and the dilemma of therapeutic support]O Rittinger
Universitätsklinik für Kinder und Jugendheilkunde, Paracelsus Medizinische Privatuniversität Salzburg, Osterreich
Klin Padiatr 217:286-90. 2005..However, observations of clinical variants of Menkes' disease with quite a different outcome and, more importantly, emerging of alternative copper transport pathways might still justify this time-limited therapeutic intervention...
- The changing phenotype in diploid/triploid mosaicism may mimic genetic syndromes with aberrant genomic imprinting: follow up in a 14-year-old girlOlaf Rittinger
Department of Pediatrics, Paracelsus Medical University Salzburg, Salzburg, Austria
Eur J Med Genet 51:573-9. 2008....
- Diabetic ketoacidosis at diagnosis in Austrian children in 1989-2008: a population-based analysisE Schober
Department of Pediatrics, Medical University of Vienna, Wahringer Gurtel 18 20, 1090 Vienna, Austria
Diabetologia 53:1057-61. 2010..The aim of the study was to analyse the prevalence of diabetic onset ketoacidosis (DKA) during a period of 20 years (1989-2008) on a population basis in the whole of Austria...
- Regional localization of two MRX genes to Xq28 (MRX28) and to Xp11.4-Xp22.12 (MRX33)E Holinski-Feder
Abteilung Pädiatrische Genetik an der Kinderpoliklinik der Ludwig Maximilians Universität München, Germany
Am J Med Genet 64:125-30. 1996..4-22.12 between the recombining markers DXS365 and MAOB, including the DMD gene (MRX33). Maximum LOD scores of 2.82 were obtained with markers DMD-STR49, DMD-DysII, CYBB, and DXS1068...