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Founder p.Arg 446* mutation in the PDHX gene explains over half of cases with congenital lactic acidosis in Roma children.
Ivanov, Ivan S; Azmanov, Dimitar N; Ivanova, Mariya B; Chamova, Teodora; Pacheva, Ilyana H; Panova, Margarita V; Song, Sharon; Morar, Bharti; Yordanova, Ralitsa V; Galabova, Fani K; Sotkova, Iglika G; Linev, Alexandar J; Bitchev, Stoyan; Shearwood, Anne-Marie J; Kancheva, Dalia; Gabrikova, Dana; Karcagi, Veronika; Guergueltcheva, Velina; Geneva, Ina E; Bozhinova, Veneta; Stoyanova, Vili K; Kremensky, Ivo; Jordanova, Albena; Savov, Aleksey; Horvath, Rita; Brown, Matthew A; Tournev, Ivailo; Filipovska, Aleksandra; Kalaydjieva, Luba.
Afiliação
  • Ivanov IS; Department of Pediatrics and Medical Genetics, Plovdiv Medical University, Bulgaria.
  • Azmanov DN; 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.
  • Ivanova MB; National Genetic Laboratory, Medical University-Sofia, Bulgaria.
  • Chamova T; Department of Neurology, Medical University-Sofia, Bulgaria.
  • Pacheva IH; Department of Pediatrics and Medical Genetics, Plovdiv Medical University, Bulgaria.
  • Panova MV; Department of Pediatrics and Medical Genetics, Plovdiv Medical University, Bulgaria.
  • Song S; The University of Queensland Diamantina Institute, Translational Research Institute, Princess Alexandra Hospital, Brisbane, Australia.
  • Morar B; Harry Perkins Institute of Medical Research and Centre for Medical Research, The University of Western Australia, Perth, Australia.
  • Yordanova RV; Department of Pediatrics and Medical Genetics, Plovdiv Medical University, Bulgaria.
  • Galabova FK; Department of Pediatrics and Medical Genetics, Plovdiv Medical University, Bulgaria.
  • Sotkova IG; Department of Pediatrics and Medical Genetics, Plovdiv Medical University, Bulgaria.
  • Linev AJ; Department of Pediatrics and Medical Genetics, Plovdiv Medical University, Bulgaria.
  • Bitchev S; National Genetic Laboratory, Medical University-Sofia, Bulgaria.
  • Shearwood AM; Harry Perkins Institute of Medical Research and Centre for Medical Research, The University of Western Australia, Perth, Australia.
  • Kancheva D; 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.
  • Gabrikova D; Department of Biology, Faculty of Humanities and Natural Sciences, University of Presov, Slovakia.
  • Karcagi V; Department of Molecular Genetics and Diagnostics, NIEH, Budapest, Hungary.
  • Guergueltcheva V; Department of Neurology, Medical University-Sofia, Bulgaria.
  • Geneva IE; Department of Pediatrics and Medical Genetics, Plovdiv Medical University, Bulgaria.
  • Bozhinova V; Department of Neurology, Medical University-Sofia, Bulgaria.
  • Stoyanova VK; Department of Pediatrics and Medical Genetics, Plovdiv Medical University, Bulgaria.
  • Kremensky I; National Genetic Laboratory, Medical University-Sofia, Bulgaria.
  • Jordanova A; 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.
  • Savov A; National Genetic Laboratory, Medical University-Sofia, Bulgaria.
  • Horvath R; Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.
  • Brown MA; The University of Queensland Diamantina Institute, Translational Research Institute, Princess Alexandra Hospital, Brisbane, Australia.
  • Tournev I; Department of Neurology, Medical University-Sofia, Bulgaria; Department of Cognitive Science and Psychology, New Bulgarian University, Sofia, Bulgaria.
  • Filipovska A; 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.
  • Kalaydjieva L; 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.
Mol Genet Metab ; 113(1-2): 76-83, 2014.
Article em En | MEDLINE | ID: mdl-25087164
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Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Complexo Piruvato Desidrogenase / Acidose Láctica / Efeito Fundador / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male / Newborn País/Região como assunto: Europa Idioma: En Revista: Mol Genet Metab Assunto da revista: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Ano de publicação: 2014 Tipo de documento: Article País de afiliação: Bulgária
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Complexo Piruvato Desidrogenase / Acidose Láctica / Efeito Fundador / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male / Newborn País/Região como assunto: Europa Idioma: En Revista: Mol Genet Metab Assunto da revista: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Ano de publicação: 2014 Tipo de documento: Article País de afiliação: Bulgária