JoseE.AbdenurMD

Medical Genetics • Orange, CA

Clinical Biochemical Genetics

Physician

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Office
455 S Main St
# Psf
Orange, CA 92868
Phone+1 714-289-4511

Fax+1 714-289-4788

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 - 2025
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
Terminated
Phase 2
Trial of Dichloroacetate in Pyruvate Dehydrogenase Complex Deficiency: Start of enrollment: 2020 Jul 14
Active, not recruiting
Phase 3
Roles: Contact

Publications & Presentations

PubMed

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
Leukoencephalopathy with Brain stem and Spinal cord involvement and Lactate elevation (LBSL): Report of a new family and a novelmutation.
Wei-Lin Huang, Maija R Steenari, Rebekah Barrick, Mariella T Simon, Richard Chang
Molecular Genetics and Metabolism Reports. 2024-03-01
Misdiagnosis of Total Parental Nutrition-Related Riboflavin Deficiency: Three Case Reports of Diagnostic Error.
Grant J Shafer, Jose E Abdenur, Vijay Dhar, Michel Mikhael
AJP Reports. 2023-01-01

Press Mentions

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
NORD Announces 2024 Rare Impact Award Honorees, Emmy Award-Winning Journalist, Peter Alexander to HostApril 23rd, 2024