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Clinical Genetics (M.D.) Physician in Oklahoma City, OK
NPI: 1154521722Primary Employer
OU Health Partners
ouhealth.com
HQ Phone
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Get Started for Freearrow_outwardFL State Medical License
FL State Medical License
OK State Medical License
FL State Medical License
2013 - 2026
OK State Medical License
2010 - 2025
TX State Medical License
2016 - 2016
MI State Medical License
2007 - 2009

American Board of Medical Genetics and Genomics
Clinical Genetics and Genomics
Ross University School of Medicine
Medical School
Until 2007
Compound heterozygote variants: c.848A > G; p.Glu283Gly and c.890C > T; p.Ala297Val, of Isovaleric acid-CoA dehydrogenase (IVD) gene causing severe Isovaleric acidemia with hyperammonemia.
Authors: Anne Tsai, Hsin-ti Lin, Maxwell Chou, Jessica Bolen, Chelsea Zimmerman, Danielle Demarzo, Yazmin Enchautegui Colon
Publication Date: 2021-09-27
Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia.
Lead Sponsor: Novartis Pharmaceuticals
Intervention / Treatment: OTHER: Prospective observational registry, DRUG: Zolgensma