{"id":"https://openalex.org/W2050127909","doi":"https://doi.org/10.1016/j.ymgme.2014.07.017","title":"Founder p.Arg 446* mutation in the PDHX gene explains over half of cases with congenital lactic acidosis in Roma children","display_name":"Founder p.Arg 446* mutation in the PDHX gene explains over half of cases with congenital lactic acidosis in Roma children","publication_year":2014,"publication_date":"2014-07-21","ids":{"openalex":"https://openalex.org/W2050127909","doi":"https://doi.org/10.1016/j.ymgme.2014.07.017","mag":"2050127909","pmid":"https://pubmed.ncbi.nlm.nih.gov/25087164"},"language":"en","primary_location":{"id":"doi:10.1016/j.ymgme.2014.07.017","doi":"https://doi.org/10.1016/j.ymgme.2014.07.017","is_oa":true,"landing_page_url":"https://doi.org/10.1016/j.ymgme.2014.07.017","pdf_url":null,"source":{"id":"https://openalex.org/S42433034","display_name":"Molecular Genetics and Metabolism","issn_l":"1096-7192","issn":["1096-7192","1096-7206"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Molecular Genetics and Metabolism","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"hybrid","oa_url":"https://doi.org/10.1016/j.ymgme.2014.07.017","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5005977533","display_name":"Ivan Stefanov Ivanov","orcid":"https://orcid.org/0000-0001-5041-332X","observed_orcids":["https://orcid.org/0000-0001-5041-332X"]},"institutions":[{"id":"https://openalex.org/I2801117330","display_name":"Medical University Plovdiv","ror":"https://ror.org/02kzxd152","country_code":"BG","type":"education","lineage":["https://openalex.org/I2801117330"]}],"countries":["BG"],"is_corresponding":false,"raw_author_name":"Ivan S. Ivanov","raw_affiliation_strings":["Department of Pediatrics and Medical Genetics, Plovdiv Medical University, Bulgaria"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics and Medical Genetics, Plovdiv Medical University, Bulgaria","institution_ids":["https://openalex.org/I2801117330"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5012029384","display_name":"Dimitar N. Azmanov","orcid":"https://orcid.org/0000-0003-4887-595X","observed_orcids":["https://orcid.org/0000-0003-4887-595X"]},"institutions":[{"id":"https://openalex.org/I177877127","display_name":"The University of Western Australia","ror":"https://ror.org/047272k79","country_code":"AU","type":"education","lineage":["https://openalex.org/I177877127"]},{"id":"https://openalex.org/I2799971621","display_name":"Harry Perkins Institute of Medical Research","ror":"https://ror.org/02xz7d723","country_code":"AU","type":"healthcare","lineage":["https://openalex.org/I2799971621"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"Dimitar N. Azmanov","raw_affiliation_strings":["Harry Perkins Institute of Medical Research and Centre for Medical Research, The University of Western Australia, Perth, Australia; Department of Diagnostic Genomics, PathWest, Perth, Australia","Harry Perkins Institute of Medical Research and Centre for Medical Research, The University of Western Australia, Perth, Australia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Harry Perkins Institute of Medical Research and Centre for Medical Research, The University of Western Australia, Perth, Australia; Department of Diagnostic Genomics, PathWest, Perth, Australia","institution_ids":["https://openalex.org/I177877127","https://openalex.org/I2799971621"]},{"raw_affiliation_string":"Harry Perkins Institute of Medical Research and Centre for Medical Research, The University of Western Australia, Perth, Australia","institution_ids":["https://openalex.org/I177877127","https://openalex.org/I2799971621"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Mariya B. Ivanova","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I30147112","display_name":"Medical University of Sofia","ror":"https://ror.org/01n9zy652","country_code":"BG","type":"education","lineage":["https://openalex.org/I30147112"]}],"countries":["BG"],"is_corresponding":false,"raw_author_name":"Mariya B. Ivanova","raw_affiliation_strings":["National Genetic Laboratory, Medical University-Sofia, Bulgaria"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"National Genetic Laboratory, Medical University-Sofia, Bulgaria","institution_ids":["https://openalex.org/I30147112"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5082459062","display_name":"Teodora Chamova","orcid":"https://orcid.org/0000-0001-5142-5007","observed_orcids":["https://orcid.org/0000-0001-5142-5007"]},"institutions":[{"id":"https://openalex.org/I30147112","display_name":"Medical University of Sofia","ror":"https://ror.org/01n9zy652","country_code":"BG","type":"education","lineage":["https://openalex.org/I30147112"]}],"countries":["BG"],"is_corresponding":false,"raw_author_name":"Teodora Chamova","raw_affiliation_strings":["Department of Neurology, Medical University-Sofia, Bulgaria"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, Medical University-Sofia, Bulgaria","institution_ids":["https://openalex.org/I30147112"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5080790331","display_name":"Ilyana H. Pacheva","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2801117330","display_name":"Medical University Plovdiv","ror":"https://ror.org/02kzxd152","country_code":"BG","type":"education","lineage":["https://openalex.org/I2801117330"]}],"countries":["BG"],"is_corresponding":false,"raw_author_name":"Ilyana H. Pacheva","raw_affiliation_strings":["Department of Pediatrics and Medical Genetics, Plovdiv Medical University, Bulgaria"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics and Medical Genetics, Plovdiv Medical University, Bulgaria","institution_ids":["https://openalex.org/I2801117330"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5058529378","display_name":"Margarita V. Panova","orcid":"https://orcid.org/0000-0003-4804-3280","observed_orcids":["https://orcid.org/0000-0003-4804-3280"]},"institutions":[{"id":"https://openalex.org/I2801117330","display_name":"Medical University Plovdiv","ror":"https://ror.org/02kzxd152","country_code":"BG","type":"education","lineage":["https://openalex.org/I2801117330"]}],"countries":["BG"],"is_corresponding":false,"raw_author_name":"Margarita V. Panova","raw_affiliation_strings":["Department of Pediatrics and Medical Genetics, Plovdiv Medical University, Bulgaria"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics and Medical Genetics, Plovdiv Medical University, Bulgaria","institution_ids":["https://openalex.org/I2801117330"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5026107395","display_name":"Sharon Song","orcid":"https://orcid.org/0000-0002-1090-9715","observed_orcids":["https://orcid.org/0000-0002-1090-9715"]},"institutions":[{"id":"https://openalex.org/I1308309334","display_name":"Translational Research Institute","ror":"https://ror.org/00v807439","country_code":"AU","type":"facility","lineage":["https://openalex.org/I1308309334"]},{"id":"https://openalex.org/I165143802","display_name":"The University of Queensland","ror":"https://ror.org/00rqy9422","country_code":"AU","type":"education","lineage":["https://openalex.org/I165143802"]},{"id":"https://openalex.org/I2801814493","display_name":"Princess Alexandra Hospital","ror":"https://ror.org/04mqb0968","country_code":"AU","type":"healthcare","lineage":["https://openalex.org/I1302211766","https://openalex.org/I2801244131","https://openalex.org/I2801814493","https://openalex.org/I4210089726"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"Sharon Song","raw_affiliation_strings":["The University of Queensland Diamantina Institute, Translational Research Institute, Princess Alexandra Hospital, Brisbane, Australia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"The University of Queensland Diamantina Institute, Translational Research Institute, Princess Alexandra Hospital, Brisbane, Australia","institution_ids":["https://openalex.org/I1308309334","https://openalex.org/I165143802","https://openalex.org/I2801814493"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5074276013","display_name":"Bharti Morar","orcid":"https://orcid.org/0000-0003-3897-1403","observed_orcids":["https://orcid.org/0000-0003-3897-1403"]},"institutions":[{"id":"https://openalex.org/I177877127","display_name":"The University of Western Australia","ror":"https://ror.org/047272k79","country_code":"AU","type":"education","lineage":["https://openalex.org/I177877127"]},{"id":"https://openalex.org/I2799971621","display_name":"Harry Perkins Institute of Medical Research","ror":"https://ror.org/02xz7d723","country_code":"AU","type":"healthcare","lineage":["https://openalex.org/I2799971621"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"Bharti Morar","raw_affiliation_strings":["Harry Perkins Institute of Medical Research and Centre for Medical Research, The University of Western Australia, Perth, Australia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Harry Perkins Institute of Medical Research and Centre for Medical Research, The University of Western Australia, Perth, Australia","institution_ids":["https://openalex.org/I177877127","https://openalex.org/I2799971621"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5017720238","display_name":"Ralitsa V. Yordanova","orcid":"https://orcid.org/0000-0003-3935-5397","observed_orcids":["https://orcid.org/0000-0003-3935-5397"]},"institutions":[{"id":"https://openalex.org/I2801117330","display_name":"Medical University Plovdiv","ror":"https://ror.org/02kzxd152","country_code":"BG","type":"education","lineage":["https://openalex.org/I2801117330"]}],"countries":["BG"],"is_corresponding":false,"raw_author_name":"Ralitsa V. Yordanova","raw_affiliation_strings":["Department of Pediatrics and Medical Genetics, Plovdiv Medical University, Bulgaria"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics and Medical Genetics, Plovdiv Medical University, Bulgaria","institution_ids":["https://openalex.org/I2801117330"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5041792880","display_name":"Fani K. Galabova","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2801117330","display_name":"Medical University Plovdiv","ror":"https://ror.org/02kzxd152","country_code":"BG","type":"education","lineage":["https://openalex.org/I2801117330"]}],"countries":["BG"],"is_corresponding":false,"raw_author_name":"Fani K. Galabova","raw_affiliation_strings":["Department of Pediatrics and Medical Genetics, Plovdiv Medical University, Bulgaria"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics and Medical Genetics, Plovdiv Medical University, Bulgaria","institution_ids":["https://openalex.org/I2801117330"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110295394","display_name":"Iglika G. Sotkova","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2801117330","display_name":"Medical University Plovdiv","ror":"https://ror.org/02kzxd152","country_code":"BG","type":"education","lineage":["https://openalex.org/I2801117330"]}],"countries":["BG"],"is_corresponding":false,"raw_author_name":"Iglika G. Sotkova","raw_affiliation_strings":["Department of Pediatrics and Medical Genetics, Plovdiv Medical University, Bulgaria"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics and Medical Genetics, Plovdiv Medical University, Bulgaria","institution_ids":["https://openalex.org/I2801117330"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5025306145","display_name":"Alexandar J. Linev","orcid":"https://orcid.org/0000-0001-7763-5555","observed_orcids":["https://orcid.org/0000-0001-7763-5555"]},"institutions":[{"id":"https://openalex.org/I2801117330","display_name":"Medical University Plovdiv","ror":"https://ror.org/02kzxd152","country_code":"BG","type":"education","lineage":["https://openalex.org/I2801117330"]}],"countries":["BG"],"is_corresponding":false,"raw_author_name":"Alexandar J. Linev","raw_affiliation_strings":["Department of Pediatrics and Medical Genetics, Plovdiv Medical University, Bulgaria"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics and Medical Genetics, Plovdiv Medical University, Bulgaria","institution_ids":["https://openalex.org/I2801117330"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5009500676","display_name":"Stoyan Bitchev","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I30147112","display_name":"Medical University of Sofia","ror":"https://ror.org/01n9zy652","country_code":"BG","type":"education","lineage":["https://openalex.org/I30147112"]}],"countries":["BG"],"is_corresponding":false,"raw_author_name":"Stoyan Bitchev","raw_affiliation_strings":["National Genetic Laboratory, Medical University-Sofia, Bulgaria"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"National Genetic Laboratory, Medical University-Sofia, Bulgaria","institution_ids":["https://openalex.org/I30147112"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5022696037","display_name":"Anne-Marie J. Shearwood","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I177877127","display_name":"The University of Western Australia","ror":"https://ror.org/047272k79","country_code":"AU","type":"education","lineage":["https://openalex.org/I177877127"]},{"id":"https://openalex.org/I2799971621","display_name":"Harry Perkins Institute of Medical Research","ror":"https://ror.org/02xz7d723","country_code":"AU","type":"healthcare","lineage":["https://openalex.org/I2799971621"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"Anne-Marie J. Shearwood","raw_affiliation_strings":["Harry Perkins Institute of Medical Research and Centre for Medical Research, The University of Western Australia, Perth, Australia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Harry Perkins Institute of Medical Research and Centre for Medical Research, The University of Western Australia, Perth, Australia","institution_ids":["https://openalex.org/I177877127","https://openalex.org/I2799971621"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5075717028","display_name":"Daliya Kancheva","orcid":"https://orcid.org/0000-0001-6222-0461","observed_orcids":["https://orcid.org/0000-0001-6222-0461"]},"institutions":[{"id":"https://openalex.org/I149213910","display_name":"University of Antwerp","ror":"https://ror.org/008x57b05","country_code":"BE","type":"education","lineage":["https://openalex.org/I149213910"]},{"id":"https://openalex.org/I30147112","display_name":"Medical University of Sofia","ror":"https://ror.org/01n9zy652","country_code":"BG","type":"education","lineage":["https://openalex.org/I30147112"]}],"countries":["BE","BG"],"is_corresponding":false,"raw_author_name":"Dalia Kancheva","raw_affiliation_strings":["Molecular Neurogenomics Group, Department of Molecular Genetics, VIB, University of Antwerp, Belgium; Department of Medical Chemistry and Biochemistry, Molecular Medicine Centre, Medical University-Sofia, Bulgaria","Department of Medical Chemistry and Biochemistry, Molecular Medicine Centre, Medical University-Sofia, Bulgaria","Molecular Neurogenomics Group, Department of Molecular Genetics, VIB, University of Antwerp, Belgium"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Molecular Neurogenomics Group, Department of Molecular Genetics, VIB, University of Antwerp, Belgium; Department of Medical Chemistry and Biochemistry, Molecular Medicine Centre, Medical University-Sofia, Bulgaria","institution_ids":["https://openalex.org/I149213910","https://openalex.org/I30147112"]},{"raw_affiliation_string":"Department of Medical Chemistry and Biochemistry, Molecular Medicine Centre, Medical University-Sofia, Bulgaria","institution_ids":["https://openalex.org/I30147112"]},{"raw_affiliation_string":"Molecular Neurogenomics Group, Department of Molecular Genetics, VIB, University of Antwerp, Belgium","institution_ids":["https://openalex.org/I149213910"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111517834","display_name":"Dana Gabrikov\u00e1","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I173161963","display_name":"University of Pre\u0161ov","ror":"https://ror.org/02ndfsn03","country_code":"SK","type":"education","lineage":["https://openalex.org/I173161963"]}],"countries":["SK"],"is_corresponding":false,"raw_author_name":"Dana Gabrikova","raw_affiliation_strings":["Department of Biology, Faculty of Humanities and Natural Sciences, University of Presov, Slovakia","Department of Biology, Faculty of Humanities & Natural Sciences , University of Pre\u0161ov , Slovakia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biology, Faculty of Humanities and Natural Sciences, University of Presov, Slovakia","institution_ids":["https://openalex.org/I173161963"]},{"raw_affiliation_string":"Department of Biology, Faculty of Humanities & Natural Sciences , University of Pre\u0161ov , Slovakia","institution_ids":["https://openalex.org/I173161963"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5052391208","display_name":"Veronika Karcagi","orcid":"https://orcid.org/0000-0001-5691-2920","observed_orcids":["https://orcid.org/0000-0001-5691-2920"]},"institutions":[{"id":"https://openalex.org/I4210118075","display_name":"Orszagos Kornyezetegeszsegugyi Intezet","ror":"https://ror.org/01pnrv279","country_code":"HU","type":"nonprofit","lineage":["https://openalex.org/I4210118075"]}],"countries":["HU"],"is_corresponding":false,"raw_author_name":"Veronika Karcagi","raw_affiliation_strings":["Department of Molecular Genetics and Diagnostics, NIEH, Budapest, Hungary"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Molecular Genetics and Diagnostics, NIEH, Budapest, Hungary","institution_ids":["https://openalex.org/I4210118075"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5107841284","display_name":"Velina Guergueltcheva","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I30147112","display_name":"Medical University of Sofia","ror":"https://ror.org/01n9zy652","country_code":"BG","type":"education","lineage":["https://openalex.org/I30147112"]}],"countries":["BG"],"is_corresponding":false,"raw_author_name":"Velina Guergueltcheva","raw_affiliation_strings":["Department of Neurology, Medical University-Sofia, Bulgaria"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, Medical University-Sofia, Bulgaria","institution_ids":["https://openalex.org/I30147112"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5019660382","display_name":"Ina E. Geneva","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2801117330","display_name":"Medical University Plovdiv","ror":"https://ror.org/02kzxd152","country_code":"BG","type":"education","lineage":["https://openalex.org/I2801117330"]}],"countries":["BG"],"is_corresponding":false,"raw_author_name":"Ina E. Geneva","raw_affiliation_strings":["Department of Pediatrics and Medical Genetics, Plovdiv Medical University, Bulgaria"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics and Medical Genetics, Plovdiv Medical University, Bulgaria","institution_ids":["https://openalex.org/I2801117330"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5053671435","display_name":"Veneta Bozhinova","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I30147112","display_name":"Medical University of Sofia","ror":"https://ror.org/01n9zy652","country_code":"BG","type":"education","lineage":["https://openalex.org/I30147112"]}],"countries":["BG"],"is_corresponding":false,"raw_author_name":"Veneta Bozhinova","raw_affiliation_strings":["Department of Neurology, Medical University-Sofia, Bulgaria"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, Medical University-Sofia, Bulgaria","institution_ids":["https://openalex.org/I30147112"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5054190114","display_name":"Vili Krasteva Stoyanova","orcid":"https://orcid.org/0000-0002-6758-7964","observed_orcids":["https://orcid.org/0000-0002-6758-7964"]},"institutions":[{"id":"https://openalex.org/I2801117330","display_name":"Medical University Plovdiv","ror":"https://ror.org/02kzxd152","country_code":"BG","type":"education","lineage":["https://openalex.org/I2801117330"]}],"countries":["BG"],"is_corresponding":false,"raw_author_name":"Vili K. Stoyanova","raw_affiliation_strings":["Department of Pediatrics and Medical Genetics, Plovdiv Medical University, Bulgaria"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics and Medical Genetics, Plovdiv Medical University, Bulgaria","institution_ids":["https://openalex.org/I2801117330"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5020071129","display_name":"Ivo Marinov Kremensky","orcid":"https://orcid.org/0000-0002-3741-2186","observed_orcids":["https://orcid.org/0000-0002-3741-2186"]},"institutions":[{"id":"https://openalex.org/I30147112","display_name":"Medical University of Sofia","ror":"https://ror.org/01n9zy652","country_code":"BG","type":"education","lineage":["https://openalex.org/I30147112"]}],"countries":["BG"],"is_corresponding":false,"raw_author_name":"Ivo Kremensky","raw_affiliation_strings":["National Genetic Laboratory, Medical University-Sofia, Bulgaria"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"National Genetic Laboratory, Medical University-Sofia, Bulgaria","institution_ids":["https://openalex.org/I30147112"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5070595327","display_name":"Albena Jordanova","orcid":"https://orcid.org/0000-0002-3833-3754","observed_orcids":["https://orcid.org/0000-0002-3833-3754"]},"institutions":[{"id":"https://openalex.org/I149213910","display_name":"University of Antwerp","ror":"https://ror.org/008x57b05","country_code":"BE","type":"education","lineage":["https://openalex.org/I149213910"]},{"id":"https://openalex.org/I30147112","display_name":"Medical University of Sofia","ror":"https://ror.org/01n9zy652","country_code":"BG","type":"education","lineage":["https://openalex.org/I30147112"]}],"countries":["BE","BG"],"is_corresponding":false,"raw_author_name":"Albena Jordanova","raw_affiliation_strings":["Molecular Neurogenomics Group, Department of Molecular Genetics, VIB, University of Antwerp, Belgium; Department of Medical Chemistry and Biochemistry, Molecular Medicine Centre, Medical University-Sofia, Bulgaria","Department of Medical Chemistry and Biochemistry, Molecular Medicine Centre, Medical University-Sofia, Bulgaria","Molecular Neurogenomics Group, Department of Molecular Genetics, VIB, University of Antwerp, Belgium"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Molecular Neurogenomics Group, Department of Molecular Genetics, VIB, University of Antwerp, Belgium; Department of Medical Chemistry and Biochemistry, Molecular Medicine Centre, Medical University-Sofia, Bulgaria","institution_ids":["https://openalex.org/I149213910","https://openalex.org/I30147112"]},{"raw_affiliation_string":"Department of Medical Chemistry and Biochemistry, Molecular Medicine Centre, Medical University-Sofia, Bulgaria","institution_ids":["https://openalex.org/I30147112"]},{"raw_affiliation_string":"Molecular Neurogenomics Group, Department of Molecular Genetics, VIB, University of Antwerp, Belgium","institution_ids":["https://openalex.org/I149213910"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5108390268","display_name":"Aleksey Savov","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I30147112","display_name":"Medical University of Sofia","ror":"https://ror.org/01n9zy652","country_code":"BG","type":"education","lineage":["https://openalex.org/I30147112"]}],"countries":["BG"],"is_corresponding":false,"raw_author_name":"Aleksey Savov","raw_affiliation_strings":["National Genetic Laboratory, Medical University-Sofia, Bulgaria"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"National Genetic Laboratory, Medical University-Sofia, Bulgaria","institution_ids":["https://openalex.org/I30147112"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5036864941","display_name":"Rita Horv\u00e1th","orcid":"https://orcid.org/0000-0002-9841-170X","observed_orcids":["https://orcid.org/0000-0002-9841-170X"]},"institutions":[{"id":"https://openalex.org/I84884186","display_name":"Newcastle University","ror":"https://ror.org/01kj2bm70","country_code":"GB","type":"education","lineage":["https://openalex.org/I84884186"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Rita Horvath","raw_affiliation_strings":["Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK","institution_ids":["https://openalex.org/I84884186"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5006817439","display_name":"Matthew Arthur Brown","orcid":"https://orcid.org/0000-0003-0538-8211","observed_orcids":["https://orcid.org/0000-0003-0538-8211"]},"institutions":[{"id":"https://openalex.org/I1308309334","display_name":"Translational Research Institute","ror":"https://ror.org/00v807439","country_code":"AU","type":"facility","lineage":["https://openalex.org/I1308309334"]},{"id":"https://openalex.org/I165143802","display_name":"The University of Queensland","ror":"https://ror.org/00rqy9422","country_code":"AU","type":"education","lineage":["https://openalex.org/I165143802"]},{"id":"https://openalex.org/I2801814493","display_name":"Princess Alexandra Hospital","ror":"https://ror.org/04mqb0968","country_code":"AU","type":"healthcare","lineage":["https://openalex.org/I1302211766","https://openalex.org/I2801244131","https://openalex.org/I2801814493","https://openalex.org/I4210089726"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"Matthew A. Brown","raw_affiliation_strings":["The University of Queensland Diamantina Institute, Translational Research Institute, Princess Alexandra Hospital, Brisbane, Australia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"The University of Queensland Diamantina Institute, Translational Research Institute, Princess Alexandra Hospital, Brisbane, Australia","institution_ids":["https://openalex.org/I1308309334","https://openalex.org/I165143802","https://openalex.org/I2801814493"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5102783117","display_name":"Ivailo Tournev","orcid":"https://orcid.org/0000-0003-4817-7676","observed_orcids":["https://orcid.org/0000-0003-4817-7676"]},"institutions":[{"id":"https://openalex.org/I122492136","display_name":"New Bulgarian University","ror":"https://ror.org/002qhr126","country_code":"BG","type":"education","lineage":["https://openalex.org/I122492136"]},{"id":"https://openalex.org/I30147112","display_name":"Medical University of Sofia","ror":"https://ror.org/01n9zy652","country_code":"BG","type":"education","lineage":["https://openalex.org/I30147112"]}],"countries":["BG"],"is_corresponding":false,"raw_author_name":"Ivailo Tournev","raw_affiliation_strings":["Department of Neurology, Medical University-Sofia, Bulgaria; Department of Cognitive Science and Psychology, New Bulgarian University, Sofia, Bulgaria","Department of Cognitive Science and Psychology, New Bulgarian University, Sofia, Bulgaria","Department of Neurology, Medical University, Sofia, Bulgaria"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, Medical University-Sofia, Bulgaria; Department of Cognitive Science and Psychology, New Bulgarian University, Sofia, Bulgaria","institution_ids":["https://openalex.org/I122492136","https://openalex.org/I30147112"]},{"raw_affiliation_string":"Department of Cognitive Science and Psychology, New Bulgarian University, Sofia, Bulgaria","institution_ids":["https://openalex.org/I122492136"]},{"raw_affiliation_string":"Department of Neurology, Medical University, Sofia, Bulgaria","institution_ids":["https://openalex.org/I30147112"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5050949179","display_name":"Aleksandra Filipovska","orcid":"https://orcid.org/0000-0002-6998-8403","observed_orcids":["https://orcid.org/0000-0002-6998-8403"]},"institutions":[{"id":"https://openalex.org/I177877127","display_name":"The University of Western Australia","ror":"https://ror.org/047272k79","country_code":"AU","type":"education","lineage":["https://openalex.org/I177877127"]},{"id":"https://openalex.org/I2799971621","display_name":"Harry Perkins Institute of Medical Research","ror":"https://ror.org/02xz7d723","country_code":"AU","type":"healthcare","lineage":["https://openalex.org/I2799971621"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"Aleksandra Filipovska","raw_affiliation_strings":["Harry Perkins Institute of Medical Research and Centre for Medical Research, The University of Western Australia, Perth, Australia; School of Chemistry and Biochemistry, The University of Western Australia, Perth, Australia","Harry Perkins Institute of Medical Research and Centre for Medical Research, The University of Western Australia, Perth, Australia","School of Chemistry and Biochemistry, The University of Western Australia, Perth, Australia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Harry Perkins Institute of Medical Research and Centre for Medical Research, The University of Western Australia, Perth, Australia; School of Chemistry and Biochemistry, The University of Western Australia, Perth, Australia","institution_ids":["https://openalex.org/I177877127","https://openalex.org/I2799971621"]},{"raw_affiliation_string":"Harry Perkins Institute of Medical Research and Centre for Medical Research, The University of Western Australia, Perth, Australia","institution_ids":["https://openalex.org/I177877127","https://openalex.org/I2799971621"]},{"raw_affiliation_string":"School of Chemistry and Biochemistry, The University of Western Australia, Perth, Australia","institution_ids":["https://openalex.org/I177877127"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5035804034","display_name":"Luba V. Kalaydjieva","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I177877127","display_name":"The University of Western Australia","ror":"https://ror.org/047272k79","country_code":"AU","type":"education","lineage":["https://openalex.org/I177877127"]},{"id":"https://openalex.org/I2799971621","display_name":"Harry Perkins Institute of Medical Research","ror":"https://ror.org/02xz7d723","country_code":"AU","type":"healthcare","lineage":["https://openalex.org/I2799971621"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"Luba Kalaydjieva","raw_affiliation_strings":["Harry Perkins Institute of Medical Research and Centre for Medical Research, The University of Western Australia, Perth, Australia. Electronic address: luba.kalaydjieva@perkins.uwa.edu.au","Harry Perkins Institute of Medical Research and Centre for Medical Research,The University of Western Australia,Perth,Australia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Harry Perkins Institute of Medical Research and Centre for Medical Research, The University of Western Australia, Perth, Australia. Electronic address: luba.kalaydjieva@perkins.uwa.edu.au","institution_ids":["https://openalex.org/I177877127","https://openalex.org/I2799971621"]},{"raw_affiliation_string":"Harry Perkins Institute of Medical Research and Centre for Medical Research,The University of Western Australia,Perth,Australia","institution_ids":["https://openalex.org/I177877127","https://openalex.org/I2799971621"]}]}],"institutions":[],"countries_distinct_count":6,"institutions_distinct_count":12,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":3680,"currency":"USD","value_usd":3680},"apc_paid":{"value":3680,"currency":"USD","value_usd":3680},"fwci":2.1586,"has_fulltext":true,"cited_by_count":24,"citation_normalized_percentile":{"value":0.84609747,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":97},"biblio":{"volume":"113","issue":"1-2","first_page":"76","last_page":"83"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11027","display_name":"Metabolism and Genetic Disorders","score":0.9984999895095825,"subfield":{"id":"https://openalex.org/subfields/1308","display_name":"Clinical Biochemistry"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T11027","display_name":"Metabolism and Genetic Disorders","score":0.9984999895095825,"subfield":{"id":"https://openalex.org/subfields/1308","display_name":"Clinical Biochemistry"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.0003000000142492354,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T12915","display_name":"Biochemical Acid Research Studies","score":9.999999747378752e-05,"subfield":{"id":"https://openalex.org/subfields/1303","display_name":"Biochemistry"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/congenital-lactic-acidosis","display_name":"congenital lactic acidosis","score":0.9649999737739563},{"id":"https://openalex.org/keywords/pyruvate-dehydrogenase-e1-alpha-subunit","display_name":"pyruvate dehydrogenase E1 alpha subunit","score":0.8529999852180481},{"id":"https://openalex.org/keywords/roma-population","display_name":"Roma population","score":0.7789999842643738},{"id":"https://openalex.org/keywords/homozygosity","display_name":"homozygosity","score":0.7889999747276306},{"id":"https://openalex.org/keywords/metabolic-acidosis","display_name":"metabolic acidosis","score":0.5799999833106995},{"id":"https://openalex.org/keywords/psychomotor-development","display_name":"psychomotor development","score":0.703000009059906},{"id":"https://openalex.org/keywords/seizures","display_name":"seizures","score":0.43299999833106995},{"id":"https://openalex.org/keywords/growth-retardation","display_name":"growth retardation","score":0.45100000500679016},{"id":"https://openalex.org/keywords/genetic-screening","display_name":"genetic screening","score":0.5320000052452087},{"id":"https://openalex.org/keywords/carrier-detection","display_name":"carrier detection","score":0.3370000123977661}],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.6784178614616394},{"id":"https://openalex.org/C2780317664","wikidata":"https://www.wikidata.org/wiki/Q1500373","display_name":"Lactic acidosis","level":2,"score":0.6713376045227051},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.5743499994277954},{"id":"https://openalex.org/C2908647359","wikidata":"https://www.wikidata.org/wiki/Q2625603","display_name":"Population","level":2,"score":0.5457186698913574},{"id":"https://openalex.org/C2776202747","wikidata":"https://www.wikidata.org/wiki/Q3064951","display_name":"Psychomotor retardation","level":3,"score":0.5101842880249023},{"id":"https://openalex.org/C164953862","wikidata":"https://www.wikidata.org/wiki/Q7256440","display_name":"Psychomotor learning","level":3,"score":0.4714423418045044},{"id":"https://openalex.org/C2778621155","wikidata":"https://www.wikidata.org/wiki/Q576349","display_name":"Encephalopathy","level":2,"score":0.4655478894710541},{"id":"https://openalex.org/C2778553927","wikidata":"https://www.wikidata.org/wiki/Q185089","display_name":"Acidosis","level":2,"score":0.4589252769947052},{"id":"https://openalex.org/C2780673598","wikidata":"https://www.wikidata.org/wiki/Q285223","display_name":"Genetic testing","level":2,"score":0.4276294410228729},{"id":"https://openalex.org/C2779421357","wikidata":"https://www.wikidata.org/wiki/Q210427","display_name":"Cerebral palsy","level":2,"score":0.41972506046295166},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.3425629734992981},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.16388770937919617},{"id":"https://openalex.org/C1862650","wikidata":"https://www.wikidata.org/wiki/Q186005","display_name":"Physical therapy","level":1,"score":0.11125195026397705},{"id":"https://openalex.org/C118552586","wikidata":"https://www.wikidata.org/wiki/Q7867","display_name":"Psychiatry","level":1,"score":0.10899472236633301},{"id":"https://openalex.org/C204787440","wikidata":"https://www.wikidata.org/wiki/Q188504","display_name":"Alternative medicine","level":2,"score":0.0},{"id":"https://openalex.org/C169900460","wikidata":"https://www.wikidata.org/wiki/Q2200417","display_name":"Cognition","level":2,"score":0.0},{"id":"https://openalex.org/C99454951","wikidata":"https://www.wikidata.org/wiki/Q932068","display_name":"Environmental health","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D000140","descriptor_name":"Acidosis, Lactic","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D000140","descriptor_name":"Acidosis, Lactic","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D000293","descriptor_name":"Adolescent","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002675","descriptor_name":"Child, Preschool","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003062","descriptor_name":"Codon","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003241","descriptor_name":"Consanguinity","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004252","descriptor_name":"DNA Mutational Analysis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005838","descriptor_name":"Genotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007223","descriptor_name":"Infant","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007231","descriptor_name":"Infant, Newborn","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011768","descriptor_name":"Pyruvate Dehydrogenase Complex","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D012383","descriptor_name":"Romania","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018154","descriptor_name":"Slovakia","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018703","descriptor_name":"Founder Effect","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true}],"locations_count":5,"locations":[{"id":"doi:10.1016/j.ymgme.2014.07.017","doi":"https://doi.org/10.1016/j.ymgme.2014.07.017","is_oa":true,"landing_page_url":"https://doi.org/10.1016/j.ymgme.2014.07.017","pdf_url":null,"source":{"id":"https://openalex.org/S42433034","display_name":"Molecular Genetics and Metabolism","issn_l":"1096-7192","issn":["1096-7192","1096-7206"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Molecular Genetics and Metabolism","raw_type":"journal-article"},{"id":"pmid:25087164","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/25087164","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Molecular genetics and metabolism","raw_type":"Journal Article"},{"id":"pmh:oai:eprints.qut.edu.au:89121","doi":null,"is_oa":true,"landing_page_url":"https://eprints.qut.edu.au/89121/1/89121.pdf","pdf_url":"https://eprints.qut.edu.au/89121/1/89121.pdf","source":{"id":"https://openalex.org/S4306402607","display_name":"QUT ePrints (Queensland University of Technology)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I160993911","host_organization_name":"Queensland University of Technology","host_organization_lineage":["https://openalex.org/I160993911"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Molecular Genetics and Metabolism","raw_type":"Contribution to Journal"},{"id":"pmh:oai:pure.atira.dk:openaire/dfe01406-cb4e-48b1-918e-c6cfbb0230a9","doi":null,"is_oa":true,"landing_page_url":"https://admin.research-repository.uwa.edu.au/en/publications/dfe01406-cb4e-48b1-918e-c6cfbb0230a9","pdf_url":null,"source":{"id":"https://openalex.org/S4306402492","display_name":"UWA Profiles and Research Repository (UWA)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I177877127","host_organization_name":"The University of Western Australia","host_organization_lineage":["https://openalex.org/I177877127"],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"info:eu-repo/semantics/article"},{"id":"mag:2228057228","doi":null,"is_oa":false,"landing_page_url":"https://eprints.qut.edu.au/89121/","pdf_url":null,"source":{"id":"https://openalex.org/S4306510308","display_name":"Faculty of Health; Institute of Health and Biomedical Innovation","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core"],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"journal"},"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":"Faculty of Health; Institute of Health and Biomedical Innovation","raw_type":null}],"best_oa_location":{"id":"doi:10.1016/j.ymgme.2014.07.017","doi":"https://doi.org/10.1016/j.ymgme.2014.07.017","is_oa":true,"landing_page_url":"https://doi.org/10.1016/j.ymgme.2014.07.017","pdf_url":null,"source":{"id":"https://openalex.org/S42433034","display_name":"Molecular Genetics and Metabolism","issn_l":"1096-7192","issn":["1096-7192","1096-7206"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Molecular Genetics and Metabolism","raw_type":"journal-article"},"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.9940000176429749,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[{"id":"https://openalex.org/G1683062455","display_name":"MICA: MRC Centre for Neuromuscular Diseases","funder_award_id":"MR/K000608/1","funder_id":"https://openalex.org/F4320334626","funder_display_name":"Medical Research Council"},{"id":"https://openalex.org/G2712086334","display_name":"Mitochondrial DNA - expression, disease and treatment.","funder_award_id":"096919","funder_id":"https://openalex.org/F4320311904","funder_display_name":"Wellcome Trust"},{"id":"https://openalex.org/G2838486833","display_name":"Genetic studies of common disorders in a founder population.","funder_award_id":"634551","funder_id":"https://openalex.org/F4320334705","funder_display_name":"National Health and Medical Research Council"},{"id":"https://openalex.org/G3037061386","display_name":"RNA processing in mitochondrial disease","funder_award_id":"1023460","funder_id":"https://openalex.org/F4320334705","funder_display_name":"National Health and Medical Research Council"},{"id":"https://openalex.org/G4022623683","display_name":"Regulation of mitochondrial gene expression in disease","funder_award_id":"1058442","funder_id":"https://openalex.org/F4320334705","funder_display_name":"National Health and Medical Research Council"},{"id":"https://openalex.org/G7629144720","display_name":"Targeting mitochondrial dysfunction in disease","funder_award_id":"FT0991008","funder_id":"https://openalex.org/F4320334704","funder_display_name":"Australian Research Council"},{"id":"https://openalex.org/G8992014351","display_name":"The mitochondrial genome in disease","funder_award_id":"1041582","funder_id":"https://openalex.org/F4320334705","funder_display_name":"National Health and Medical Research Council"}],"funders":[{"id":"https://openalex.org/F4320311904","display_name":"Wellcome Trust","ror":"https://ror.org/029chgv08"},{"id":"https://openalex.org/F4320321730","display_name":"Fonds Wetenschappelijk Onderzoek","ror":"https://ror.org/03qtxy027"},{"id":"https://openalex.org/F4320324595","display_name":"Universiteit Antwerpen","ror":"https://ror.org/008x57b05"},{"id":"https://openalex.org/F4320327336","display_name":"Vlaamse regering","ror":null},{"id":"https://openalex.org/F4320334626","display_name":"Medical Research Council","ror":"https://ror.org/03x94j517"},{"id":"https://openalex.org/F4320334704","display_name":"Australian Research Council","ror":"https://ror.org/05mmh0f86"},{"id":"https://openalex.org/F4320334705","display_name":"National Health and Medical Research Council","ror":"https://ror.org/011kf5r70"}],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2050127909.pdf","grobid_xml":"https://content.openalex.org/works/W2050127909.grobid-xml"},"referenced_works_count":23,"referenced_works":["https://openalex.org/W1483242733","https://openalex.org/W1518817367","https://openalex.org/W1602914599","https://openalex.org/W1978119925","https://openalex.org/W2001227780","https://openalex.org/W2039755772","https://openalex.org/W2057509417","https://openalex.org/W2059145105","https://openalex.org/W2078939558","https://openalex.org/W2090307609","https://openalex.org/W2106246223","https://openalex.org/W2113943940","https://openalex.org/W2130482554","https://openalex.org/W2131335608","https://openalex.org/W2134708989","https://openalex.org/W2141810183","https://openalex.org/W2142287332","https://openalex.org/W2142554782","https://openalex.org/W2147387551","https://openalex.org/W2161633633","https://openalex.org/W2164004777","https://openalex.org/W2466416815","https://openalex.org/W4234042459"],"related_works":["https://openalex.org/W2089228023","https://openalex.org/W2067694197","https://openalex.org/W2094440017","https://openalex.org/W6999463934","https://openalex.org/W197024695","https://openalex.org/W137111373","https://openalex.org/W6977210797","https://openalex.org/W3034784555","https://openalex.org/W3076228676","https://openalex.org/W1979692437"],"abstract_inverted_index":{"Investigation":[0],"of":[1,3,28,40,48,62,81,92,110,153,170,209],"31":[2],"Roma":[4,87,194],"patients":[5,41,173],"with":[6,100,158,196],"congenital":[7],"lactic":[8,101],"acidosis":[9,102],"(CLA)":[10],"from":[11,66,73],"Bulgaria":[12],"identified":[13],"homozygosity":[14],"for":[15,37,182],"the":[16,20,24,29,43,54,82,85,93,105,113,129,183,216],"R446*":[17,95,184],"mutation":[18,83,185],"in":[19,31,42,58,84,104,126,132,167,186,193,205,225],"PDHX":[21,187],"gene":[22],"as":[23,112,128,188],"most":[25,114],"common":[26,115],"cause":[27],"disorder":[30],"this":[32],"ethnic":[33],"group.":[34],"It":[35,199],"accounted":[36],"around":[38],"60%":[39],"study":[44],"and":[45,68,75,120,148,160,202,220],"over":[46,168],"25%":[47],"all":[49],"CLA":[50],"cases":[51],"referred":[52],"to":[53,162,214],"National":[55],"Genetic":[56],"Laboratory":[57],"Bulgaria.":[59],"The":[60,89,138],"detection":[61],"a":[63,78,133,149,175,189,206],"homozygous":[64],"patient":[65],"Hungary":[67],"carriers":[69],"among":[70],"population":[71],"controls":[72],"Romania":[74],"Slovakia":[76],"suggests":[77],"wide":[79],"spread":[80],"European":[86],"population.":[88],"clinical":[90,140,218],"phenotype":[91],"twenty":[94],"homozygotes":[96],"was":[97,142],"relatively":[98],"homogeneous,":[99],"crisis":[103],"first":[106,191],"days":[107],"or":[108],"months":[109],"life":[111],"initial":[116],"presentation":[117],"(15/20":[118],"patients)":[119],"delayed":[121],"psychomotor":[122],"development":[123],"and/or":[124],"seizures":[125],"infancy":[127],"leading":[130],"manifestations":[131],"smaller":[134],"group":[135],"(5/20":[136],"patients).":[137],"subsequent":[139],"picture":[141],"dominated":[143],"by":[144],"impaired":[145],"physical":[146],"growth":[147],"very":[150],"consistent":[151],"pattern":[152],"static":[154],"cerebral":[155],"palsy-like":[156],"encephalopathy":[157],"spasticity":[159],"severe":[161],"profound":[163],"mental":[164],"retardation":[165],"seen":[166],"80%":[169],"cases.":[171],"Most":[172],"had":[174],"positive":[176],"family":[177],"history.":[178],"We":[179],"propose":[180],"testing":[181],"rapid":[190],"screening":[192],"infants":[195],"metabolic":[197],"acidosis.":[198],"will":[200],"facilitate":[201],"accelerate":[203],"diagnosis":[204],"large":[207],"proportion":[208],"cases,":[210],"allow":[211],"early":[212],"rehabilitation":[213],"alleviate":[215],"chronic":[217],"course,":[219],"prevent":[221],"further":[222],"affected":[223],"births":[224],"high-risk":[226],"families.":[227]},"counts_by_year":[{"year":2026,"cited_by_count":2},{"year":2025,"cited_by_count":1},{"year":2024,"cited_by_count":2},{"year":2023,"cited_by_count":2},{"year":2022,"cited_by_count":1},{"year":2021,"cited_by_count":3},{"year":2020,"cited_by_count":1},{"year":2019,"cited_by_count":2},{"year":2017,"cited_by_count":3},{"year":2016,"cited_by_count":3},{"year":2015,"cited_by_count":1},{"year":2014,"cited_by_count":3}],"updated_date":"2026-11-05T12:25:35.769452","created_date":"2016-06-24T00:00:00"}