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Prognostic Value of Genotype-Phenotype Correlations in X-Linked Myotubular Myopathy and the Use of the Face2Gene Application as an Effective Non-Invasive Diagnostic Tool.

Autor: Kušíková K; Department of Pediatric Neurology, Faculty of Medicine, Comenius University Bratislava and National Institute of Children's Diseases, 83340 Bratislava, Slovakia., Šoltýsová A; Department of Molecular Biology, Faculty of Natural Sciences, Comenius University, 84215 Bratislava, Slovakia.; Institute for Clinical and Translational Research, Biomedical Research Center, Slovak Academy of Sciences, 84505 Bratislava, Slovakia., Ficek A; Department of Molecular Biology, Faculty of Natural Sciences, Comenius University, 84215 Bratislava, Slovakia., Feichtinger RG; University Children's Hospital, SalzburgerLandeskliniken (SALK), Paracelsus Medical University Salzburg, 5020 Salzburg, Austria., Mayr JA; University Children's Hospital, SalzburgerLandeskliniken (SALK), Paracelsus Medical University Salzburg, 5020 Salzburg, Austria., Škopková M; Department of Metabolic Disorders, Institute of Experimental Endocrinology, Biomedical Research Center, Slovak Academy of Science, 84505 Bratislava, Slovakia., Gašperíková D; Department of Metabolic Disorders, Institute of Experimental Endocrinology, Biomedical Research Center, Slovak Academy of Science, 84505 Bratislava, Slovakia., Kolníková M; Department of Pediatric Neurology, Faculty of Medicine, Comenius University Bratislava and National Institute of Children's Diseases, 83340 Bratislava, Slovakia., Ornig K; Division of Neuropathology, Department of Pathology and Molecular Pathology, Neuromed Campus, Kepler University Hospital, Johannes Kepler University, 4020 Linz, Austria., Kalev O; Division of Neuropathology, Department of Pathology and Molecular Pathology, Neuromed Campus, Kepler University Hospital, Johannes Kepler University, 4020 Linz, Austria., Weis S; Division of Neuropathology, Department of Pathology and Molecular Pathology, Neuromed Campus, Kepler University Hospital, Johannes Kepler University, 4020 Linz, Austria., Weis D; Department of Medical Genetics, Kepler University Hospital Med Campus IV, Johannes Kepler University, 4020 Linz, Austria.

Publikováno v: Genes [Genes (Basel)] 2023 Dec 03; Vol. 14 (12). Date of Electronic Publication: 2023 Dec 03.

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Genetic testing is necessary for correct diagnosis and treatment in patients with isolated methylmalonic aciduria: a case report.

Autor: Brennerová K; Department of Paediatrics, Medical Faculty of Comenius University and National Institute for Children's Diseases, Limbová 1, 833 40, Bratislava, Slovakia., Škopková M; Laboratory of Diabetes and Metabolic Disorders, Institute of Experimental Endocrinology, Biomedical Research Center, Slovak Academy of Sciences, Dúbravská cesta 9, 845 05, Bratislava, Slovakia., Ostrožlíková M; Department of Laboratory Medicine, National Institute for Children's Diseases, Limbova 1, 833 40, Bratislava, Slovakia., Šaligová J; Department of Paediatrics, Medical Faculty of P. J. Šafárik University in Košice, Trieda SNP 1, 040 11, Košice, Slovakia., Staník J; Department of Paediatrics, Medical Faculty of Comenius University and National Institute for Children's Diseases, Limbová 1, 833 40, Bratislava, Slovakia.; Laboratory of Diabetes and Metabolic Disorders, Institute of Experimental Endocrinology, Biomedical Research Center, Slovak Academy of Sciences, Dúbravská cesta 9, 845 05, Bratislava, Slovakia., Bzdúch V; Department of Paediatrics, Medical Faculty of Comenius University and National Institute for Children's Diseases, Limbová 1, 833 40, Bratislava, Slovakia., Gašperíková D; Laboratory of Diabetes and Metabolic Disorders, Institute of Experimental Endocrinology, Biomedical Research Center, Slovak Academy of Sciences, Dúbravská cesta 9, 845 05, Bratislava, Slovakia. daniela.gasperikova@savba.sk.

Publikováno v: BMC pediatrics [BMC Pediatr] 2021 Dec 16; Vol. 21 (1), pp. 578. Date of Electronic Publication: 2021 Dec 16.