Biomarkers of oxidative stress, inflammation, and vascular dysfunction in inherited cystathionine β‐synthase deficient homocystinuria and the impact of taurine treatment in a phase 1/2 human clinical trial-Reference-Cited by-同舟云学术

Biomarkers of oxidative stress, inflammation, and vascular dysfunction in inherited cystathionine β‐synthase deficient homocystinuria and the impact of taurine treatment in a phase 1/2 human clinical trial

Published:2019-04-11 Issue: Volume: Page:
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Van Hove Johan L. K.¹,Freehauf Cynthia L.¹,Ficicioglu Can²,Pena Loren D. M.³,Moreau Kerrie L.⁴⁵,Henthorn Thomas K.⁶⁷,Christians Uwe⁶,Jiang Hua¹,Cowan Tina M.⁸,Young Sarah P.³,Hite Michelle⁹,Friederich Marisa W.¹,Stabler Sally P.⁴,Spector Elaine B.¹,Kronquist Kathryn E.¹,Thomas Janet A.¹,Emmett Peggy¹⁰,Harrington Mary J.¹⁰,Pyle Laura¹¹¹,Creadon‐Swindell Geralyn¹,Wempe Michael F.⁷,MacLean Kenneth N.¹

Affiliation:

1. Department of Pediatrics, School of MedicineUniversity of Colorado Aurora Colorado

2. Division of Human Genetics, The Children's Hospital PhiladelphiaPerelman School of Medicine at the University of Pennsylvania Philadelphia Pennsylvania

3. Division of Medical Genetics, Department of PediatricsDuke University Durham North Carolina

4. Department of Medicine, School of MedicineUniversity of Colorado Aurora Colorado

5. Geriatric Research and Education CenterDenver Veterans Administration Medical Center Aurora Colorado

6. iC42 Clinical Research and Development, Department of Anesthesiology, School of MedicineUniversity of Colorado Aurora Colorado

7. Skaggs School of Pharmacy and Pharmaceutical SciencesUniversity of Colorado Aurora Colorado

8. Department of PathologyStanford University Stanford California

9. Research InstituteChildren's Hospital Colorado Aurora Colorado

10. CTRC Core LaboratoryChildren's Hospital Colorado Aurora Colorado

11. Department of Biostatistics and Informatics, Colorado School of Public HealthUniversity of Colorado Aurora Colorado

Funder

Children's Hospital Colorado Research Institute

National Center for Advancing Translational Sciences

U.S. Food and Drug Administration

Walter S. and Lucienne Driskill Foundation

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jimd.12085

Reference39 articles.

1. The natural history of homocystinuria due to cystathionine β‐synthase deficiency;Mudd SH;Am J Hum Genet,1985

2. Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency

3. Treatment of Inherited Homocystinurias

4. Homocystinuria — The Effects of Betaine in the Treatment of Patients Not Responsive to Pyridoxine

5. Vascular Outcome in Patients With Homocystinuria due to Cystathionine β-Synthase Deficiency Treated Chronically

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