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European Journal of Pediatrics|June 5, 2001
Clinical and neuropsychological outcome in 33 patients with biotinidase deficiency ascertained by nationwide newborn screening and family studies in AustriaD Möslinger, S Stöckler-Ipsiroglu, S Scheibenreiter, et al.Human Genetics|November 9, 2000
Mutation analysis in glycogen storage disease type 1 non-aA R Janecke, M Lindner, M Erdel, et al.Journal of Neurology|November 29, 2017
Pompe disease in Austria: clinical, genetic and epidemiological aspectsW N Löscher, M Huemer, T M Stulnig, et al.Orphanet Journal of Rare Diseases|April 29, 2019
The natural history of classic galactosemia: lessons from the GalNet registryM E Rubio-Gozalbo, M Haskovic, A M Bosch, et al.Pageof 2