Novel findings in patients with primary hyperoxaluria type III and implications for advanced molecular testing strategies - Beck, Bodo B; Baasner, Anne; Buescher, Anja; Habbig, Sandra; Reintjes, Nadine; Kemper, Markus J; Sikora, Przemyslaw; Mache, Christoph; Pohl, Martin; Stahl, Mirjam; Toenshoff, Burkhard; Pape, Lars; et al. (European journal of human genetics : EJHG, 2013)
Keywords: Adolescent; Adult; Cell Culture Techniques; Disease; Enzymes; Female; Gene Expression; Genetic screening; Genetic Testing; Genetics; Genotype & phenotype; Heredity; Hospitals; Humans; Hyperoxaluria; Hyperoxaluria, Primary - diagnosis; Hyperoxaluria, Primary - genetics; Kidney Calculi - genetics; Kidney Calculi - physiopathology; Liver; Male; Metabolism; Middle Aged; Mutation; Nephrology; Oxo-Acid-Lyases - genetics; Oxo-Acid-Lyases - metabolism; Pediatrics; Pedigree; Phenotypes; Primary hyperoxaluria; Proteins; Remission; Siblings; Transplants & implants; Germany