Clinical and molecular characteristics of newly reported mitochondrial disease entity caused by biallelic PARS2 mutations.

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作者： Elżbieta,Ciara ^[1] ; Dariusz,Rokicki ^[2] ; Michal,Lazniewski ^[3] ; Hanna,Mierzewska ^[4] ; Elżbieta,Jurkiewicz ^[5] ; Monika,Bekiesińska-Figatowska ^[6] ; Dorota,Piekutowska-Abramczuk ^[7] ; Katarzyna,Iwanicka-Pronicka ^[8] ; Edyta,Szymańska ^[9] ; Piotr,Stawiński ^[10] ; Joanna,Kosińska ^[11] ; Agnieszka,Pollak ^[11] ; Maciej,Pronicki ^[11] ; Dariusz,Plewczyński ^[12] ; Rafał,Płoski ^[3] ; Ewa,Pronicka ^[4]

作者单位： Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland. E.CIARA@IPCZD.PL. ^[1] Department of Pediatrics Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, Warsaw, Poland. D.ROKICKI@IPCZD.PL. ^[2] Centre of New Technologies, University of Warsaw, Banacha 2c Street, 02-071, Warsaw, Poland. ^[3] Department of Physical Chemistry, Faculty of Pharmacy, Medical University of Warsaw, Banacha 1, 02-097, Warsaw, Poland. ^[4] Department of Child Neurology, Institute of Mother and Child, Warsaw, Poland. ^[5] Department of Diagnostic Imaging, The Children's Memorial Health Institute, Warsaw, Poland. ^[6] Department of Diagnostic Imaging, Institute of Mother and Child, Warsaw, Poland. ^[7] Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland. ^[8] Department of Audiology and Phoniatrics, Children's Memorial Health Institute, Warsaw, Poland. ^[9] Department of Pediatrics Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, Warsaw, Poland. ^[10] Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland. ^[11] Department of Pathology, The Children's Memorial Health Institute, Warsaw, Poland. ^[12] Faculty of Mathematics and Information Science, Warsaw University of Technology, Warsaw, Poland. ^[13]