المؤلفون: Małgorzata Rydzanicz, Paulina Halat, Dariusz Rokicki, Maciej Pronicki, Agnieszka Karkucinska-Wieckowska, Ewa Pronicka, Małgorzata Krajewska-Walasek, Joanna Trubicka, Elżbieta Ciara, Joanna Kosińska, Agnieszka Pollak, Piotr Stawiński, Dorota Piekutowska-Abramczuk, Elżbieta Jurkiewicz, Magdalena Pajdowska, Rafał Płoski

المصدر: Journal of Translational Medicine

مصطلحات موضوعية: Male, 0301 basic medicine, Candidate gene, Novel mutation, Mitochondrial Diseases, Biopsy, Mitochondrial disease, NDUFV1, Biology, DNA, Mitochondrial, Pediatrics, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, symbols.namesake, Basal ganglia involvement, medicine, Humans, Exome, Child, Mitochondrial disease criteria scale, Exome sequencing, Medicine(all), Genetics, Sanger sequencing, Mitochondrial disorders, Biochemistry, Genetics and Molecular Biology(all), Research, Muscles, Infant, Newborn, Neonates, Infant, Sequence Analysis, DNA, General Medicine, 3-Methylglutaconic Aciduria, medicine.disease, Leigh syndrome, Pedigree, 030104 developmental biology, Whole-exome sequencing, Child, Preschool, Mutation, symbols, Female, 3-methylglutaconic aciduria, CLPB, Metabolism, Inborn Errors

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a5d88e5721591b0d068f610c90213b2
https://doi.org/10.1186/s12967-016-0930-9

المؤلفون: Bayram Kahraman, Ahmet Kemal Firat, Cengiz Yakinci, Hakki Muammer Karakas

المصدر: CMIG Extra: Cases. 29:19-22

مصطلحات موضوعية: Pathology, medicine.medical_specialty, business.industry, Late stage, Health Informatics, Subcortical cysts, medicine.disease, Leukoencephalopathy, White matter, Basal ganglia involvement, medicine.anatomical_structure, nervous system, Slow progression, Basal ganglia, medicine, Brain swelling, Radiology, Nuclear Medicine and imaging, business, Vacuolating megalencephalic leukoencephalopathy

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a10f36a26448bfaddd44d4674c89a965
https://doi.org/10.1016/j.compmedimag.2005.03.005

المؤلفون: Santer, Rene, Wolf, Nicole I., van Hasselt, Peter M., Pronicka, Ewa, Riordan, Gilian, Wortmann, Saskia B., Baric, Ivo, Burlina, Alberto, Darin, Niklas, Hoerster, Friederike, Coker, Mahmut, Krumina, Zita, Naess, Karin, Ngu, Lock H., Wassmer, Evangeline, Zschocke, Johannes, Schiff, Manuel, de Meirleir, Linda, Alowain, Mohammed A., Smeitink, Jan A. M., Morava, Eva, Kozicz, Tamas, Wevers, Ron A., Willemsen, Michel A., Ucar, Sema Kalkan

مصطلحات موضوعية: SERAC1, MEGDEL syndrome, 3-methylglutaconic aciduria, basal ganglia involvement, putamen, Leigh syndrome

Relation: Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; Neuropediatrics; https://hdl.handle.net/11454/40403; https://doi.org/10.1055/s-0034-1399755; 46; 98; 103

الاتاحة: https://hdl.handle.net/11454/40403
https://doi.org/10.1055/s-0034-1399755