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The phenotypic spectrum of germline YARS2 variants: from isolated sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2.
Riley, Lisa G; Heeney, Matthew M; Rudinger-Thirion, Joëlle; Frugier, Magali; Campagna, Dean R; Zhou, Ronghao; Hale, Gregory A; Hilliard, Lee M; Kaplan, Joel A; Kwiatkowski, Janet L; Sieff, Colin A; Steensma, David P; Rennings, Alexander J; Simons, Annet; Schaap, Nicolaas; Roodenburg, Richard J; Kleefstra, Tjitske; Arenillas, Leonor; Fita-Torró, Josep; Ahmed, Rasha; Abboud, Miguel; Bechara, Elie; Farah, Roula; Tamminga, Rienk Y J; Bottomley, Sylvia S; Sanchez, Mayka; Huls, Gerwin; Swinkels, Dorine W; Christodoulou, John; Fleming, Mark D.
Afiliação
  • Riley LG; Genetic Metabolic Disorders Research Unit, Kids Research Institute, Children's Hospital at Westmead, Sydney, Australia.
  • Heeney MM; Discipline of Child & Adolescent Health, Sydney Medical School, University of Sydney, Australia.
  • Rudinger-Thirion J; Dana Farber-Boston Children's Center for Cancer and Blood Disorders, Boston, MA, USA.
  • Frugier M; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.
  • Campagna DR; Architecture et Réactivité de l'ARN, Université de Strasbourg, CNRS, IBMC, Strasbourg, France.
  • Zhou R; Architecture et Réactivité de l'ARN, Université de Strasbourg, CNRS, IBMC, Strasbourg, France.
  • Hale GA; Department of Pathology, Boston Children's Hospital, Boston, MA, USA.
  • Hilliard LM; Dana Farber-Boston Children's Center for Cancer and Blood Disorders, Boston, MA, USA.
  • Kaplan JA; Johns Hopkins All Children's Hospital, St. Petersburg, FL, USA.
  • Kwiatkowski JL; Division of Pediatric Hematology Oncology, University of Alabama at Birmingham, AL, USA.
  • Sieff CA; Levine Children's Hospital, Charlotte, NC, USA.
  • Steensma DP; The Children's Hospital of Philadelphia, Division of Hematology, Philadelphia, PA, USA.
  • Rennings AJ; University of Pennsylvania School of Medicine, Philadelphia, PA, USA.
  • Simons A; Dana Farber-Boston Children's Center for Cancer and Blood Disorders, Boston, MA, USA.
  • Schaap N; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.
  • Roodenburg RJ; Adult Leukemia Program, Dana-Farber Cancer Institute, Boston, MA, USA.
  • Kleefstra T; Harvard Medical School, Boston, MA USA.
  • Arenillas L; Department of Internal Medicine, Radboud University Medical Centre, Nijmegen, the Netherlands.
  • Fita-Torró J; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, the Netherlands.
  • Ahmed R; Department of Hematology, Radboud University Medical Centre, Nijmegen, the Netherlands.
  • Abboud M; Radboud Center for Mitochondrial Medicine, Translational Metabolic Laboratory, Department of Pediatrics, Radboud University Medical Centre, Nijmegen, the Netherlands.
  • Bechara E; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, the Netherlands.
  • Farah R; Laboratorio Citología Hematológica, Servicio Patología, GRETNHE, IMIM Hospital del Mar Research Institute, Hospital del Mar, Barcelona, Spain.
  • Tamminga RYJ; Iron metabolism: regulation and disease group, Josep Carreras Leukaemia Research Institute (IJC), Campus ICO-Germans Trias i Pujol, Campus Can Ruti, Carretera de Can Ruti, Cami de les Escoles, Badalona, Spain.
  • Bottomley SS; Department of Pediatrics and Adolescents, American University of Beirut Medical Center, Beirut, Lebanon.
  • Sanchez M; Department of Pediatrics and Adolescents, American University of Beirut Medical Center, Beirut, Lebanon.
  • Huls G; Department of Pediatrics, Saint George Hospital University Medical Center, Beirut, Lebanon.
  • Swinkels DW; Department of Pediatrics, Saint George Hospital University Medical Center, Beirut, Lebanon.
  • Christodoulou J; Beatrix Children's Hospital, Department of Pediatric Hematology, University Medical Center Groningen, University of Groningen, the Netherlands.
  • Fleming MD; Department of Medicine, University of Oklahoma College of Medicine, Oklahoma City, OK, USA.
Haematologica ; 103(12): 2008-2015, 2018 12.
Article em En | MEDLINE | ID: mdl-30026338
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Tirosina-tRNA Ligase / Acidose Láctica / Síndrome MELAS / Mutação em Linhagem Germinativa / Proteínas Mitocondriais / Doenças Genéticas Ligadas ao Cromossomo X / Anemia Sideroblástica Limite: Adolescent / Adult / Female / Humans / Infant / Male / Middle aged Idioma: En Revista: Haematologica Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Austrália País de publicação: Itália
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Tirosina-tRNA Ligase / Acidose Láctica / Síndrome MELAS / Mutação em Linhagem Germinativa / Proteínas Mitocondriais / Doenças Genéticas Ligadas ao Cromossomo X / Anemia Sideroblástica Limite: Adolescent / Adult / Female / Humans / Infant / Male / Middle aged Idioma: En Revista: Haematologica Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Austrália País de publicação: Itália