Quantitative clinical characteristics of 53 patients with MPS VII: a cross-sectional analysis-Reference-Cited by-同舟云学术

Quantitative clinical characteristics of 53 patients with MPS VII: a cross-sectional analysis

Published:2017-09 Issue:9 Volume:19 Page:983-988
ISSN:1098-3600
Container-title:Genetics in Medicine
language:en
Short-container-title:Genetics in Medicine

Author:

Zielonka Matthias,Garbade Sven F.,Kölker Stefan,Hoffmann Georg F.,Ries Markus

Publisher

Elsevier BV

Subject

Genetics (clinical)

Link

http://www.nature.com/articles/gim201710.pdf

Reference29 articles.

1. Human Gene Mutation Database. GUSB entry. 2016. http://www.hgmd.cf.ac.uk/ac/gene.php?gene=GUSB. Accessed 18 August 2016.

2. Orphanet. Orphanet Rare Diseases Collection. Prevalence distribution of rare diseases: bibliographic data. November 2016. http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence:of_rare_diseases_by_alphabetical_list.pdf. Accessed 8 March 2017.

3. US Food and Drug Administration. Orphan Drug Designations and Approvals. 2016. https://www.accessdata.fda.gov/scripts/opdlisting/oopd/. Accessed 17 August 2016.

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