共 50 条
- [22] A novel MT-CO2 m.8249G>A pathogenic variation and the MT-TW m.5521G>A mutation in patients with mitochondrial myopathy MITOCHONDRIAL DNA, 2014, 25 (05): : 394 - 399
- [24] Pyridoxine-dependent epilepsy: A novel mutation in a Tunisian child ARCHIVES DE PEDIATRIE, 2017, 24 (03): : 241 - 243
- [25] A NOVEL MUTATION OF THE ERYTHROID-SPECIFIC AMINOLEVULINATE SYNTHASE 2 GENE IN A PATIENT WITH PYRIDOXINE RESPONSIVE SIDEROBLASTIC ANEMIA AND DEFERASIROX RESPONSIVE HEMOCHROMATOSIS HAEMATOLOGICA-THE HEMATOLOGY JOURNAL, 2010, 95 : 725 - 725
- [27] First cases of pyridoxine-dependent epilepsy in Bulgaria: novel mutation in the ALDH7A1 gene Neurological Sciences, 2015, 36 : 2209 - 2212
- [29] Pyridoxine-Dependent Epilepsy: A Treatable Epilepsy Syndrome Presenting with Dystonia and Congenital Cataracts with a Novel Mutation MOVEMENT DISORDERS CLINICAL PRACTICE, 2023, 10 (03): : 521 - 523