CHOC Children's Researcher Detail

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Jose E Abdenur, MD

Dr. Abdenur has staff privileges at CHOC in Orange

Location:
Orange, CA

Specialty:
Metabolic Disorders

Special Interests:
The diagnosis and management of children with fatty acid oxidation defects and organic acidemias

Research Focus:
Dietary treatments for newborns with fatty acid oxidation defects

Published Works:

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Office and Contact Information

CHOC Children's Specialists
1201 W La Veta
Orange, CA 92868
phone: (714) 509-8852
fax: (714) 509-8362
map & directions

Web Site:
http://www.choc.org/specialists

Physician / Researcher Bio

Dr. Abdenur is the chief of the division of metabolic disorders at CHOC Children's and Director of CHOC's metabolic laboratory—one of only a few such laboratories in the United States. He is board certified in clinical biochemical genetics and is a member of the guidelines committee for the Newborn Screening Program, Genetic Diseases Screening Program for the California Department of Health. Dr. Abdenur completed fellowship training in pediatric endocrinology, metabolism and nutrition at North Shore University Hospital, Cornell University Medical College. He also completed fellowship training in Biochemical Genetics, at the Denver Children's Hospital and The Biochemical Genetics Laboratory at the University of Colorado Health Sciences Center, and in Clinical Genetics at Mount Sinai School of Medicine in New York. Dr. Abdenur completed his pediatric residency training at Hospital General de Ninos Dr. Pedro de Elizalde in Buenos Aires and received his medical training at the Universidad de Buenos Aires, Argentina.

Hospital General de Ninos Dr. Pedro de Elizalde Unidad de Endocrinología Pediatrica Buenos Aires, Capital Federal. R.Argentina.

Research

Dr. Abdenur is dedicated to investigating screenings for metabolic disorders in newborns and dietary treatments for newborns with fatty acid oxidation defects. He is currently working on newborn screenings for Krabbe disease. He is also working to identify maternal metabolic disorders through a newborn screening program. In addition, he is investigating the use of low-fat diets for infants with Mead deficiency.

Dr. Abdenur has coauthored more than 150 abstracts, presentations, book chapters, and journal articles and has received numerous awards.

Education

Fellowship - Biochemical Genetics
The Mount Sinai Hospital, Department of Pediatrics and Genetics, Mount Sinai School of Medicine, New York, NY, USA. The Children’s Hospital and Biochemical Genetics Laboratory, Department of Pediatrics, University of Colorado Health Sciences Center, Denver, Colorado, USA
Fellowship- Human Genetics
The Mount Sinai Hospital Department of Pediatrics and Genetics, Mount Sinai School of Medicine, New York, NY, USA.
Fellowship-Pediatric Endocrinology, Metabolism and Nutrition
North Shore University Hospital, Department of Pediatrics, Cornell University Medical College, Manhasset, New York, USA
Research Fellow in Pediatric Endocrinology
Hospital General de Ninos Dr. Pedro de Elizalde Unidad de Endocrinología Pediatrica Buenos Aires, Capital Federal. R.Argentina.

Board Certifications

Clinical and Biochemical Genetics

Honors and Awards

In 1994, he received the Young Pediatric Investigator Award from the National Institutes of Health for his work at Mount Sinai Child Health Research Center.
In 2009, he received the award for best research presentation in Inborn Errors of Metabolism from Il Congreso Lantinoamericano de Erroes Innatos del Metabolismo y Pesquisa Neonatal.
In 2010, the Children and Families Commission of Orange County named him an “Agent of Change”

CHOC physicians honored as “agents of change”
Physician Connection: Summer 2010
The Children and Families Commission of Orange County is commemorating its 10th anniversary by paying tribute to 10 extraordinary Orange County residents whose compassion and dedication have profound...

CHOC is Regional Center for Metabolic Disorders
Kid's Health (Archive): Summer 2009
"Early identification and intervention of metabolic disorders has helped us prevent disability, mental retardation and death." - Jose Abdenur, M.D., Medical Director of Metabolic Services at CHOC...

Meet Dr. Abdenur
Making a Mark: October 2007
Jos? Abdenur, MD, is medical director of Metabolic Services at CHOC and chief of the Metabolic Disorders Division for the CHOC Pediatric Subspecialty Faculty....

Research Spotlight:
Making a Mark: October 2007
Disorders like cancer, cerebral palsy and diabetes are often in the research spotlight, but other, lesser-known disorders also have a grave impact on children....

CHOC Specialist Recommends Supplemental Newborn Screening
Kid's Health (Archive): Fall 2003
"If parents want the expanded, supplemental newborn screening panel, they have to specifically ask for it." Jose Abdenur, M.D., division chief of metabolic disorders for the Pediatric Subspecia...

Published Works

Gavrilov DK Tortorelli S, Turgeon CT, McHugh DMS, Lim JS, Baumgart S, Bergum A, Day-Salvatore DL, Abdenur JE, Bernstein J, Lorey F, Lichter-Konecki U, Oglesbee D, Raymond K, Matern D, Schimmenti L, Rinaldo P. “A two-tier approach to the newborn screening of methylenetratrahydrofolate reductase deficiency and other re-methylation disorders by tandem mass spectrometry.” (Accepted – The Journal of Pediatrics-2010)

Brun L, Hock Ngu L, Choy YS, Hwu WL, Siew ChG, Willemsen M, Verbeek M, Lee WT, Régal L, Orcesi S, Tonduti D, Téstard H, Abdenur JE, Tay S, Allen GF, Heales S, Kern I, Kato M, Burlina A, Manegold C, Hoffmann GF, and Blau N. “Diagnosis, outcome, and long-term follow-up of 77 patients with aromatic L-amino acid decarboxylase deficiency: Lesson from the international database of pediatric neurotransmitter disorders.” Neurology. 2010 Aug 10;75(6):576

Puckett R, Sowa M, Lorey F, Levine S, Rinaldo P, Lipson M, Matern D, Sowa M, Levine S, Chang R, Wang R, Abdenur JE. “Maple syrup urine disease (MSUD) : Further evidence that variant forms cannot be detected by newborn screening (NBS)”. MGM 2010; 100: 136-142.