Dr. Jose E. Abdenur M.D.
Geneticist | Clinical Biochemical Genetics
455 S Main St Psf Metabolic Orange CA, 92868About
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 cer ...
Education and Training
Univ De Buenos Aires- Fac De Med- Buenos Aires- Argentina 1979
Universidad De Buenos Aires, Facultad De Ciencias Medicas 1980
Board Certification
Medical GeneticsAmerican Board of Medical GeneticsABMG
Provider Details
Expert Publications
Data provided by the National Library of Medicine- MCAD deficiency. Acylcarnitines (AC) by tandem mass spectrometry (MS-MS) are useful to monitor dietary treatment.
- Multiple acyl-CoA-dehydrogenase deficiency (MADD): use of acylcarnitines and fatty acids to monitor the response to dietary treatment.
- Molecular studies in mutase-deficient (MUT) methylmalonic aciduria: identification of five novel mutations.
- Structural (betaalpha)8 TIM barrel model of 3-hydroxy-3-methylglutaryl-coenzyme A lyase.
- Aromatic l-aminoacid decarboxylase deficiency: unusual neonatal presentation and additional findings in organic acid analysis.
- Rapid identification of mitochondrial DNA (mtDNA) mutations in neuromuscular disorders by using surveyor strategy.
- [Insulin/glucagon relationship in spontaneous diabetic remission].
- Molecular and clinical genetics of mitochondrial diseases due to POLG mutations.
- Expanded clinical and molecular spectrum of guanidinoacetate methyltransferase (GAMT) deficiency.
- Further evidence of Fukutin mutations as a cause of childhood onset limb-girdle muscular dystrophy without mental retardation.
- Treatment reduces or stabilizes brain imaging abnormalities in patients with MPS I and II.
- Evidence for genetic heterogeneity in D-2-hydroxyglutaric aciduria.
- Maple syrup urine disease: further evidence that newborn screening may fail to identify variant forms.
- Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency.
- Maternal medium-chain acyl-CoA dehydrogenase deficiency identified by newborn screening.
Awards
- Agent of Change - Children and Families Commission of Orange County
Fellowships
- Pedro Elizalde Children's Hospital 1986
- 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
- Human Genetics: The Mount Sinai Hospital Department of Pediatrics and Genetics, Mount Sinai School of Medicine, New York, NY, USA.
- Pediatric Endocrinology, Metabolism and Nutrition: North Shore University Hospital, Department of Pediatrics, Cornell University Medical College, Manhasset, New York, USA
Dr. Jose E. Abdenur M.D.'s Practice location
Jose Abdenur, MD
455 S Main St Psf Metabolic -Orange, CA 92868Get Direction
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CHILDREN'S HOSPITAL OF ORANGE COUNTYl
1201 W LA VETA AVE ORANGE CA 92868UNIVERSITY OF CALIFORNIA IRVINE MED CENTERl
101 CITY DRIVE SOUTH ORANGE CA 92868