Physician

Medical Genetics

Dr. Jose E. Abdenur, MD

Doctor Jose E. Abdenur, MD works in the field of Medical Genetics. He has 3 awards "Top Doctors:LA Area", "Top Doctors:San Diego Area" and "Top Doctors:Southern California". Doctor Jose E. Abdenur, MD is a published doctor. He published 43 publications, including: 'Diagnosis of isovaleric acidaemia by tandem mass spectrometry: false positive result due to pivaloylcarnitine in a newborn screening programme.'

Publications

Mutations of Human NARS2, Encoding the Mitochondrial Asparaginyl-tRNA Synthetase, Cause Nonsyndromic Deafness and Leigh Syndrome.
Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics.
Effects of hematopoietic stem cell transplantation on acyl-CoA oxidase deficiency: a sibling comparison study.
Prevention of metabolic decompensation in an infant with mutase deficient methylmalonic aciduria undergoing cardiopulmonary bypass.
Infants suspected to have very-long chain acyl-CoA dehydrogenase deficiency from newborn screening.
Severe, fatal multisystem manifestations in a patient with dolichol kinase-congenital disorder of glycosylation.
Abnormalities in Glycogen Metabolism in a Patient with Alpers' Syndrome Presenting with Hypoglycemia.
Reduction in newborn screening metabolic false-positive results following a new collection protocol.
Sepiapterin reductase deficiency: A Treatable Mimic of Cerebral Palsy.
Biochemical, molecular, and clinical characteristics of children with short chain acyl-CoA dehydrogenase deficiency detected by newborn screening in California.
Initial experience in the treatment of inherited mitochondrial disease with EPI-743.
Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project.
Evidence for genetic heterogeneity in D-2-hydroxyglutaric aciduria.
Treatment reduces or stabilizes brain imaging abnormalities in patients with MPS I and II.
Molecular and clinical genetics of mitochondrial diseases due to POLG mutations.
The mitochondrial 13513G>A mutation is associated with Leigh disease phenotypes independent of complex I deficiency in muscle.
Carnitine deficiency in pregnancy.
Aromatic l-aminoacid decarboxylase deficiency: unusual neonatal presentation and additional findings in organic acid analysis.
Safety and efficacy of enzyme replacement therapy in combination with hematopoietic stem cell transplantation in Hurler syndrome.
Structural (betaalpha)8 TIM barrel model of 3-hydroxy-3-methylglutaryl-coenzyme A lyase.
Molecular studies in mutase-deficient (MUT) methylmalonic aciduria: identification of five novel mutations.
Two-tier approach to the newborn screening of methylenetetrahydrofolate reductase deficiency and other remethylation disorders with tandem mass spectrometry.
The relationship between beta-endorphin and the growth hormone (GH) response to GH releasing hormone in prepubertal children.
Multiple acyl-CoA-dehydrogenase deficiency (MADD): use of acylcarnitines and fatty acids to monitor the response to dietary treatment.
MCAD deficiency. Acylcarnitines (AC) by tandem mass spectrometry (MS-MS) are useful to monitor dietary treatment.
Diagnosis of isovaleric acidaemia by tandem mass spectrometry: false positive result due to pivaloylcarnitine in a newborn screening programme.
Response to nutritional and growth hormone treatment in progeria.
Screening for the mitochondrial DNA A3243G mutation in children with insulin-dependent diabetes mellitus.
[Autoimmune hypoglycemia syndrome with specific anti-human insulin antibodies].
Molecular prenatal diagnosis of glycogen storage disease type Ia.
Body composition and spontaneous growth hormone secretion in normal short stature children.
Isolation of liver cells by perchlorate-citrate perfusion.
[Diabetic nephropathy in children: study using the amount of urinary albumin].
[Insulin/glucagon relationship in spontaneous diabetic remission].
Rapid identification of mitochondrial DNA (mtDNA) mutations in neuromuscular disorders by using surveyor strategy.
Further evidence of Fukutin mutations as a cause of childhood onset limb-girdle muscular dystrophy without mental retardation.
Expanded clinical and molecular spectrum of guanidinoacetate methyltransferase (GAMT) deficiency.
Maple syrup urine disease: further evidence that newborn screening may fail to identify variant forms.
Alterations in spontaneous growth hormone (GH) secretion and the response to GH-releasing hormone in children with nonorganic nutritional dwarfing.
Maternal medium-chain acyl-CoA dehydrogenase deficiency identified by newborn screening.
Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency.
Krabbe disease: clinical, biochemical and molecular information on six new patients and successful retrospective diagnosis using stored newborn screening cards.

Doctors Specialties

Clinical Biochemical Genetics
Medical Genetics

Accepted Insurances

Aetna HMO
Basic HMO
Choice Plus POS II
Vitalidad Plus California Con Aetna
Blue Card PPO
Blue Cross Blue Shield of California PPO
Access Plus Savenet
Basic Exclusive PPO for Small Business
Basic PPO
Enhanced Exclusive for Small Business HMO
Local Access Plus HMO
Cigna HMO
Cigna PPO
Great West Healthcare-Cigna PPO
LocalPlus
Open Access Plus
Commercial Insurance Company
First Health (Coventry Health Care) PPO
Health Alliance
Blue & Gold HMO
Community Care Network HMO
Covered California - Bronze PPO
Employer Group HMO
Health Net PPO
Individual and Family PPO
Medicare Advantage PFFS
Medicaid
Medicare MCR
Optima Health
Heritage Signature
Choice Plus POS
Navigate HMO
Navigate POS
Options PPO
PacifiCare HMO
United Healthcare

Awards

Top Doctors:LA Area
Top Doctors:San Diego Area
Top Doctors:Southern California

Education

North Shore-Long Island Jewish Health System
University of Buenos Aires

Hospital

St. Joseph Hospital
Children's Hospital of Orange County

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