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Majeed syndrome: description of a novel mutation and therapeutic response to bisphosphonates and IL-1 blockade with anakinra.
Roy, Noémi B A; Zaal, Ahmad I; Hall, Georgina; Wilkinson, Nick; Proven, Melanie; McGowan, Simon; Hipkiss, Ria; Buckle, Veronica; Kavirayani, Akhila; Babbs, Christian.
Afiliação
  • Roy NBA; Department of Haematology, Oxford University Hospitals NHS Foundation Trust.
  • Zaal AI; Oxford BRC Haematology Theme, University of Oxford.
  • Hall G; Paediatric Rheumatology, Nuffield Orthopaedic Centre, Oxford University Hospitals NHS Foundation Trust, Oxford.
  • Wilkinson N; Children's Hospital, Damascus University, Damascus, Syria.
  • Proven M; Paediatric Haematology/Oncology Unit, Oxford University Hospitals, Oxford.
  • McGowan S; Paediatric Rheumatology, Evelina Children's Hospital, Guy's and St Thomas' NHS Foundation Trust, London.
  • Hipkiss R; Molecular Haematology Laboratory, Oxford University Hospitals NHS Foundation Trust.
  • Buckle V; Computational Biology Research Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford.
  • Kavirayani A; Molecular Haematology Laboratory, Oxford University Hospitals NHS Foundation Trust.
  • Babbs C; MRC Molecular Haematology Unit, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
Rheumatology (Oxford) ; 59(2): 448-451, 2020 02 01.
Article em En | MEDLINE | ID: mdl-31377798
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Osteomielite / Proteínas Nucleares / Difosfonatos / Proteína Antagonista do Receptor de Interleucina 1 / Síndromes de Imunodeficiência / Anemia Diseritropoética Congênita / Mutação Limite: Humans / Infant Idioma: En Ano de publicação: 2020 Tipo de documento: Article
Texto completo
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Osteomielite / Proteínas Nucleares / Difosfonatos / Proteína Antagonista do Receptor de Interleucina 1 / Síndromes de Imunodeficiência / Anemia Diseritropoética Congênita / Mutação Limite: Humans / Infant Idioma: En Ano de publicação: 2020 Tipo de documento: Article