Phenotype and biochemical heterogeneity in late onset Fabry disease defined by N215S mutation

• L. Lavalle ,

  Contributed equally to this work with: L. Lavalle, D. A. Hughes

  Roles Data curation, Formal analysis, Methodology, Project administration, Visualization, Writing – original draft, Writing – review & editing

  Affiliation Lysosomal Storage Disorders Unit, Department of Haematology, Royal Free Hospital and University College Medical School, London, United Kingdom

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• A. S. Thomas ,

  Roles Data curation, Investigation, Writing – review & editing

  ¶‡ These authors also contributed equally to this work.

  Affiliation UCL Institute of Cardiovascular Science, Barts Heart Centre, Barts Health NHS Trust, London, United Kingdom

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• B. Beaton ,

  Roles Investigation, Writing – review & editing

  ¶‡ These authors also contributed equally to this work.

  Affiliation Lysosomal Storage Disorders Unit, Department of Haematology, Royal Free Hospital and University College Medical School, London, United Kingdom

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• H. Ebrahim ,

  Roles Investigation, Writing – review & editing

  ¶‡ These authors also contributed equally to this work.

  Affiliation Lysosomal Storage Disorders Unit, Department of Haematology, Royal Free Hospital and University College Medical School, London, United Kingdom

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• M. Reed ,

  Roles Formal analysis, Supervision, Visualization, Writing – review & editing

  ¶‡ These authors also contributed equally to this work.

  Affiliation Lysosomal Storage Disorders Unit, Department of Haematology, Royal Free Hospital and University College Medical School, London, United Kingdom

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• U. Ramaswami ,

  Roles Investigation, Writing – review & editing

  ¶‡ These authors also contributed equally to this work.

  Affiliation Lysosomal Storage Disorders Unit, Department of Haematology, Royal Free Hospital and University College Medical School, London, United Kingdom

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• P. Elliott ,

  Roles Investigation, Writing – review & editing

  ¶‡ These authors also contributed equally to this work.

  Affiliation Haematology Department, St George’s Hospital NHS Foundation Trust, London, United Kingdom

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• A. B. Mehta ,

  Roles Investigation, Writing – review & editing

  ¶‡ These authors also contributed equally to this work.

  Affiliation Lysosomal Storage Disorders Unit, Department of Haematology, Royal Free Hospital and University College Medical School, London, United Kingdom

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• D. A. Hughes

  Contributed equally to this work with: L. Lavalle, D. A. Hughes

  Roles Conceptualization, Data curation, Formal analysis, Funding acquisition, Investigation, Methodology, Project administration, Resources, Supervision, Validation, Visualization, Writing – original draft, Writing – review & editing

  * E-mail: rmgvdah@ucl.ac.uk

  Affiliation Lysosomal Storage Disorders Unit, Department of Haematology, Royal Free Hospital and University College Medical School, London, United Kingdom

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