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455 S Main St# PsfOrange, CA 92868
Phone+1 714-289-4511
Fax+1 714-289-4788
Dr. Abdenur is on Doximity
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Education & Training
Zucker School of Medicine at Hofstra/Northwell at Cohen Children's Medical CenterFellowship, Pediatric Endocrinology, 1988 - 1991
University of Buenos AiresClass of 1979
Certifications & Licensure
CA State Medical License 2003 - 2027
American Board of Medical Genetics and Genomics Clinical Biochemical Genetics
Awards, Honors, & Recognition
- Top Doctors:LA Area Castle Connolly, 2013
- Top Doctors:San Diego Area Castle Connolly, 2013
- Top Doctors:Southern California Castle Connolly, 2012
Clinical Trials
- Phase 2 Study of EPI-743 in Children With Pearson Syndrome Start of enrollment: 2014 Aug 31
- Trial of Dichloroacetate in Pyruvate Dehydrogenase Complex Deficiency: Start of enrollment: 2020 Jul 14
Roles: Contact
Publications & Presentations
PubMed
- 1 citationsPathogenic PDE12 variants impair mitochondrial RNA processing causing neonatal mitochondrial disease.Lindsey Van Haute, Petra Páleníková, Jia Xin Tang, Pavel A Nash, Mariella T Simon
EMBO Molecular Medicine. 2025-01-01 - Feasibility of newborn screening for pyridoxine-dependent epilepsy.Kristine Pauly, Michael Woontner, Jose E Abdenur, Bimal P Chaudhari, Rachel Gosselin
Molecular Genetics and Metabolism. 2025-01-01 - Newborn Screening for X-Linked Adrenoleukodystrophy (X-ALD): Biochemical, Molecular, and Clinical Characteristics of Other Genetic Conditions.Carlos F Mares Beltran, Christina G Tise, Rebekah Barrick, Annie D Niehaus, Rebecca Sponberg
Genes. 2024-06-26
Press Mentions
CureARS and CHOC Symposium Unites Leading Rare Disease ResearchersFebruary 13th, 2025- CHOC, UCI Health to Hold Symposium for Rare Disease Community on March 11February 22nd, 2022
- UCI and CHOC Join New NORD Rare Disease Centers of Excellence NetworkNovember 4th, 2021
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