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Neuropediatrics|December 7, 2007
Brainstem disconnection: case report and review of the literatureA Poretti, E Boltshauser, B PleckoEuropean Journal of Pediatrics|January 7, 1999
Partial N-acetylglutamate synthetase deficiency in a 13-year-old girl: diagnosis and response to treatment with N-carbamylglutamateB Plecko, W Erwa, B WermuthJournal of Inherited Metabolic Disease|April 23, 2003
A novel 6 bp insertion in exon 7 associated with an unusual phenotype in a family with Fabry diseaseTh Kroepfl, K Paul, P Kotanko, et al.Clinical Genetics|March 18, 2008
Mental retardation in a girl with a subtelomeric deletion on chromosome 20q and complete deletion of the myelin transcription factor 1 gene (MYT1)T Kroepfl, E Petek, T Schwarzbraun, et al.European Journal of Pediatrics|December 1, 1993
Liposomal amphotericin-B (AmBisome) for treatment of cutaneous widespread candidosis in an infant with methylmalonic acidaemiaS Stöckler, H Lackner, G Ginter, et al.Journal of Inherited Metabolic Disease|June 21, 2006
Copper concentration of liver tissue under long-term copper-histidine therapy in a patient with Menkes diseaseT Kroepfl, E Mair, J Deutsch, et al.Hamostaseologie|September 19, 2009
Malignant stroke in an adolescent with a homozygous MTHFR 677CT mutation and intake of hormonal contraceptivesK Pfurtscheller, B Senning, H Bernhard, et al.Annals of Neurology|July 14, 2000
Pipecolic acid elevation in plasma and cerebrospinal fluid of two patients with pyridoxine-dependent epilepsyB Plecko, S Stöckler-Ipsiroglu, E Paschke, et al.Pediatric Pulmonology|February 1, 1993
Late-onset miliary pneumonitis after near drowningH Mangge, B Plecko, H M Grubbauer, et al.European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|October 21, 2021
Safety and recommendations for vaccinations of children with inborn errors of metabolismR Hady-Cohen, P Dragoumi, D Barca, et al.Pageof 4