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  1. Rigshospitalet
  2. Researchers
  3. Line Gutte Borgwardt
Rigshospitalet - a part of Copenhagen University Hospital

Line Gutte Borgwardt

Afdelingslæge

Latest publications View all (15) »

  1. Published

    Case Report: Hyper IgM Syndrome Identified by Whole Genome Sequencing in a Young Syrian Man Presenting With Atypical, Severe and Recurrent Mucosal Leishmaniasis

    Research output: Contribution to journal › Journal article › Research › peer-review

  2. Published

    Genotype-phenotype associations in PPGLs in 59 patients with variants in SDHX genes

    Research output: Contribution to journal › Journal article › Research › peer-review

  3. Published

    Cholesteryl ester storage disease of clinical and genetic characterisation: A case report and review of literature

    Research output: Contribution to journal › Journal article › Research › peer-review

Frequent journals View all »

  1. Journal of Inherited Metabolic Disease

    ISSNs: 0141-8955

    Additional searchable ISSN (Electronic): 1573-2665

    Springer Netherlands, Netherlands

    Journal

  2. Clinical Genetics

    ISSNs: 0009-9163

    Additional searchable ISSN (Electronic): 1399-0004

    Wiley-Blackwell Munksgaard, United States

    Journal

  3. Molecular Genetics and Metabolism

    ISSNs: 1096-7192, 1077-3150, 0885-4505, 0006-2944

    Additional searchable ISSN (Electronic): 1096-7206

    Academic Press, United States

    Journal

  4. Clinical Physiology and Functional Imaging

    ISSNs: 1475-0961, 0144-5979, 1365-2281

    Additional searchable ISSN (Electronic): 1475-097X

    Wiley-Blackwell Publishing Ltd, United Kingdom

    Journal

  5. Paediatric Anaesthesia

    ISSNs: 1155-5645

    Wiley-Blackwell Publishing Ltd, United Kingdom

    Journal

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Expertises

Clinical Genetics

Main research areas

Lysosomale storage disorders. Alpha-mannosidosis

Current research

Alpha-mannosidosis

Alport Disease

ID: 59423306