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The Capital Region of Denmark - a part of Copenhagen University Hospital
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Safety of switching to Migalastat from enzyme replacement therapy in Fabry disease: Experience from the Phase 3 ATTRACT study

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

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

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

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  4. Stakeholders in psychiatry and their attitudes toward receiving pertinent and incident findings in genomic research

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  1. Hashimoto's thyroiditis as a risk factor for thyroid cancer

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  2. Disease Control and Gender Predict the Socioeconomic Effects of Acromegaly: A Nationwide Cohort Study

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  3. Ecological momentary assessments (EMAs) did not improve responsiveness of patient-reported outcomes on quality of life

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  4. Is the alpha-galactosidase A variant p.Asp313Tyr (p.D313Y) pathogenic for Fabry disease? A systematic review

    Research output: Contribution to journalReviewResearchpeer-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 - Jun 2019

ID: 57283777