Orphanet Journal of Rare Diseases - Research - The Capital Region of Denmark

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

Orphanet Journal of Rare Diseases, 1750-1172

Journal

Latest publications View all (21) »

Published
An ontological foundation for ocular phenotypes and rare eye diseases
Research output: Contribution to journal › Letter › Research › peer-review
Published
Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?
Research output: Contribution to journal › Journal article › Research › peer-review
Published
Migalastat improves diarrhea in patients with Fabry disease: clinical-biomarker correlations from the phase 3 FACETS trial
Research output: Contribution to journal › Journal article › Research › peer-review

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Orphanet Journal of Rare Diseases

Medline Abbreviated Title: Orphanet J Rare Dis, ORPHANET J RARE DIS, Orphanet journal of rare diseases

Titles	Orphanet Journal of Rare Diseases
ISSNs	1750-1172
Publisher	BioMed Central Ltd
Country	United Kingdom

Journal

ID: 138548