Interactive alkaptonuria database: investigating clinical data to improve patient care in a rare disease-Reference-Cited by-同舟云学术

Interactive alkaptonuria database: investigating clinical data to improve patient care in a rare disease

Published:2019-08-28 Issue:11 Volume:33 Page:12696-12703
ISSN:0892-6638
Container-title:The FASEB Journal
language:en
Short-container-title:FASEB j.

Author:

Cicaloni Vittoria¹²,Spiga Ottavia¹,Dimitri Giovanna Maria³,Maiocchi Rebecca¹²,Millucci Lia¹,Giustarini Daniela¹,Bernardini Giulia¹,Bernini Andrea¹,Marzocchi Barbara¹⁴,Braconi Daniela¹,Santucci Annalisa¹

Affiliation:

1. Department of BiotechnologyChemistry, and Pharmacy, University of SienaSienaItaly

2. Toscana Life Sciences FoundationSienaItaly

3. Department of Computer ScienceUniversity of CambridgeCambridgeUnited Kingdom

4. Unità Operativa Complessa (UOC) Patologia ClinicaAzienda Ospedaliera SeneseSienaItaly

Publisher

Wiley

Subject

Genetics,Molecular Biology,Biochemistry,Biotechnology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1096/fj.201901529R

Reference61 articles.

1. Natural History of Alkaptonuria

2. Twelve novel HGD gene variants identified in 99 alkaptonuria patients: focus on ‘black bone disease’ in Italy

3. The molecular basis of alkaptonuria

4. Acute fatal metabolic complications in alkaptonuria

5. Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria

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