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Leigh syndrome in individuals bearing m.9185T>C MTATP6 variant. Is hyperventilation a factor which starts its development?
Piekutowska-Abramczuk, Dorota; Rutyna, Rafal; Czyzyk, Elzbieta; Jurkiewicz, Elzbieta; Iwanicka-Pronicka, Katarzyna; Rokicki, Dariusz; Stachowicz, Sylwia; Strzemecka, Joanna; Guz, Wieslaw; Gawronski, Michal; Kosierb, Aneta; Ligas, Joanna; Puchala, Mateusz; Drelich-Zbroja, Anna; Bednarska-Makaruk, Malgorzata; Dabrowski, Wojciech; Ciara, Elzbieta; Ksiazyk, Janusz B; Pronicka, Ewa.
Afiliación
  • Piekutowska-Abramczuk D; Department of Medical Genetics, The Children's Memorial Health Institute, Aleja Dzieci Polskich 20, 04-730, Warsaw, Poland. d.abramczuk@czd.pl.
  • Rutyna R; Chair and Department of Anaesthesiology and Intensive Therapy, Medical University of Lublin, Lublin, Poland.
  • Czyzyk E; Clinical Department of Child Neurology, Clinical Central Hospital No 2 in Rzeszow, Rzeszow, Poland.
  • Jurkiewicz E; Department of Radiology, The Children's Memorial Health Institute, Warsaw, Poland.
  • Iwanicka-Pronicka K; Department of Audiology and Phoniatrics, The Children's Memorial Health Institute, Warsaw, Poland.
  • Rokicki D; Department of Pediatrics, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, Warsaw, Poland.
  • Stachowicz S; Department of Neurology, Public Independent Clinic Hospital No 4 in Lublin, Lublin, Poland.
  • Strzemecka J; Department of Orthopaedics and Rehabilitation, Public Independent Clinic Hospital No 4 in Lublin, Lublin, Poland.
  • Guz W; Institute of Health Sciences, Pope John Paul II State School of Higher Education, Biala Podlaska, Poland.
  • Gawronski M; Department of Electroradiology, Institute of Nursing and Health Sciences, Faculty of Medicine, University of Rzeszow, Rzeszów, Poland.
  • Kosierb A; Clinical Department of Radiology, Clinical Central Hospital No 2, Rzeszow, Poland.
  • Ligas J; Student Academic Club at The Chair and Department of Anaesthesiology and Intensive Therapy, II Faculty of Medicine with English Language Division, Medical University of Lublin, Lublin, Poland.
  • Puchala M; Student Academic Club at The Chair and Department of Anaesthesiology and Intensive Therapy, II Faculty of Medicine with English Language Division, Medical University of Lublin, Lublin, Poland.
  • Drelich-Zbroja A; Student Academic Club at The Chair and Department of Anaesthesiology and Intensive Therapy, II Faculty of Medicine with English Language Division, Medical University of Lublin, Lublin, Poland.
  • Bednarska-Makaruk M; Student Academic Club at The Chair and Department of Anaesthesiology and Intensive Therapy, II Faculty of Medicine with English Language Division, Medical University of Lublin, Lublin, Poland.
  • Dabrowski W; Department of Interventional Radiology and Neuroradiology Medical University of Lublin, Lublin, Poland.
  • Ciara E; Department of Genetics, Institute of Psychiatry and Neurology, Warsaw, Poland.
  • Ksiazyk JB; Chair and Department of Anaesthesiology and Intensive Therapy, Medical University of Lublin, Lublin, Poland.
  • Pronicka E; Department of Medical Genetics, The Children's Memorial Health Institute, Aleja Dzieci Polskich 20, 04-730, Warsaw, Poland.
Metab Brain Dis ; 33(1): 191-199, 2018 02.
Article en En | MEDLINE | ID: mdl-29116603

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Enfermedad de Leigh / ATPasas de Translocación de Protón Mitocondriales / Hiperventilación / Mutación Tipo de estudio: Diagnostic_studies Límite: Adult / Child / Child, preschool / Humans Idioma: En Revista: Metab Brain Dis Asunto de la revista: CEREBRO / METABOLISMO Año: 2018 Tipo del documento: Article País de afiliación: Polonia

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Enfermedad de Leigh / ATPasas de Translocación de Protón Mitocondriales / Hiperventilación / Mutación Tipo de estudio: Diagnostic_studies Límite: Adult / Child / Child, preschool / Humans Idioma: En Revista: Metab Brain Dis Asunto de la revista: CEREBRO / METABOLISMO Año: 2018 Tipo del documento: Article País de afiliación: Polonia