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The Capital Region of Denmark - a part of Copenhagen University Hospital
Published

Safety of switching to Migalastat from enzyme replacement therapy in Fabry disease: Experience from the Phase 3 ATTRACT study

Research output: Contribution to journalJournal articleResearchpeer-review

DOI

  1. Positive response to imatinib in PDGFRB-related Kosaki overgrowth syndrome

    Research output: Contribution to journalLetterResearchpeer-review

  2. Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Clinical characteristics and quality of life, depression, and anxiety in adults with neurofibromatosis type 1: A nationwide study

    Research output: Contribution to journalJournal articleResearchpeer-review

  4. First reported adult patient with TARP syndrome: A case report

    Research output: Contribution to journalJournal articleResearchpeer-review

  5. Ocular albinism with infertility and late-onset sensorineural hearing loss

    Research output: Contribution to journalJournal articleResearchpeer-review

  1. Acute and persistent symptoms in non-hospitalized PCR-confirmed COVID-19 patients

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. Alexithymia, Emotional Distress, and Perceived Quality of Life in Patients With Hashimoto's Thyroiditis

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Incidence and Clinical Presentation of Pheochromocytoma and Sympathetic Paraganglioma: A Population-based Study

    Research output: Contribution to journalJournal articleResearchpeer-review

  • Derralynn A Hughes
  • Kathleen Nicholls
  • Gere Sunder-Plassmann
  • Ana Jovanovic
  • Ulla Feldt-Rasmussen
  • Raphael Schiffmann
  • Robert Giugliani
  • Vipul Jain
  • Chris Viereck
  • Jeffrey P Castelli
  • Nina Skuban
  • Jay A Barth
  • Daniel G Bichet
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Original languageEnglish
JournalAmerican Journal of Medical Genetics. Part A
Volume179
Issue number6
Pages (from-to)1069-1073
Number of pages5
ISSN1552-4825
DOIs
Publication statusPublished - 1 Jun 2019

ID: 57283777