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Rigshospitalet - 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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  5. von Hippel-Lindau development in children and adolescents

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  1. The effect of dual-release versus conventional hydrocortisone on fatigue, measured by ecological momentary assessments

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  2. Sex differences in acromegaly at diagnosis: A nationwide cohort study and meta-analysis of the literature

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  3. Adrenal insufficiency in kidney transplant patients during low-dose prednisolone therapy: a cross-sectional case-control study

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  4. Corticotroph aggressive pituitary tumours and carcinomas frequently harbour ATRX mutations

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  • 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