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Decompensation of cardiorespiratory function and emergence of anemia during pregnancy in a case of mitochondrial myopathy, lactic acidosis, and sideroblastic anemia 2 with compound heterozygous YARS2 pathogenic variants.
Rudaks, Laura I; Watson, Eloise; Oboudiyat, Carly; Kumar, Kishore R; Sullivan, Patricia; Cowley, Mark J; Davis, Ryan L; Sue, Carolyn M.
  • Rudaks LI; Department of Neurology, Royal North Shore Hospital, St Leonards, New South Wales, Australia.
  • Watson E; Department of Neurology, Royal North Shore Hospital, St Leonards, New South Wales, Australia.
  • Oboudiyat C; Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia.
  • Kumar KR; Department of Neurology, Royal North Shore Hospital, St Leonards, New South Wales, Australia.
  • Sullivan P; Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia.
  • Cowley MJ; Molecular Medicine Laboratory and Department of Neurology, Concord Repatriation General Hospital, Concord, New South Wales, Australia.
  • Davis RL; Translational Genome Informatics Group, Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Sydney, New South Wales, Australia.
  • Sue CM; Children's Cancer Institute, Lowy Cancer Centre, University of New South Wales, Sydney, New South Wales, Australia.
Am J Med Genet A ; 188(7): 2226-2230, 2022 07.
Article en En | MEDLINE | ID: mdl-35393742
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Tirosina-ARNt Ligasa / Acidosis Láctica / Miopatías Mitocondriales / Anemia Sideroblástica / Enfermedades Musculares Tipo de estudio: Diagnostic_studies Límite: Adult / Female / Humans / Pregnancy Idioma: En Año: 2022 Tipo del documento: Article
Texto completo
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XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Tirosina-ARNt Ligasa / Acidosis Láctica / Miopatías Mitocondriales / Anemia Sideroblástica / Enfermedades Musculares Tipo de estudio: Diagnostic_studies Límite: Adult / Female / Humans / Pregnancy Idioma: En Año: 2022 Tipo del documento: Article