José E. Abdenur - Concepedia

Author

José E. Abdenur

Children's Hospital of Orange County ORCID

Also Known As

J Abdenur, J E Abdenur, J. Abdenur, J. E. Abdenur, J.E. Abdenur, JOSE E. ABDENUR, James Pitt, Joie Davis, Jose Abdenur, Jose E Abdenur

111

Publications

4.4K

Citations

H-Index

110

Concepts

All Affiliations

Children's Hospital of Orange County University of California, Irvine University of Washington California Department of Public Health University of California, Los Angeles

About

José E. Abdenur is an author at Children's Hospital of Orange County specializing in medicine, genetics, and pediatrics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	27	42	3K
2	Public Health	7	7	207
3	Natural Sciences	5	5	242
4	Health Sciences	4	4	128
5	Biochemistry	4	4	122

José E. Abdenur

Publications

4.2K

Citations

H-Index

Page 1

	Year	Citations
Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics Priya S. Kishnani, Stephanie Austin, José E. Abdenur, Genetics in Medicine Practice GuidelineMendelian DisorderMedicineGeneticsAmerican College	2014	476
Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project David McHugh, Cynthia A. Cameron, José E. Abdenur, Genetics in Medicine Metabolic SyndromeNewborn ScreeningMetabolic DisorderMass SpectrometryPediatrics	2011	349
Molecular and clinical genetics of mitochondrial diseases due to<i>POLG</i>mutations Lee-Jun Wong, Robert K. Naviaux, Nicola Brunetti‐Pierri, Human Mutation GeneticsMolecular GeneticsDisease Gene IdentificationClinical GeneticsMitochondrial Myopathy	2008	287
Mutations in GDP-Mannose Pyrophosphorylase B Cause Congenital and Limb-Girdle Muscular Dystrophies Associated with Hypoglycosylation of α-Dystroglycan Keren Carss, Elizabeth Stevens, A. Reghan Foley, The American Journal of Human Genetics	2013	236
Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency Louis‐Daniel Brun, Lock Hock Ngu, Wee Teik Keng, Neurology	2010	219
Initial experience in the treatment of inherited mitochondrial disease with EPI-743 Gregory M. Enns, Stephen L. Kinsman, Susan Perlman, Molecular Genetics and Metabolism Mitochondrial DysfunctionGeneticsGenetic EpidemiologyPathologyOxidative Stress	2011	196
Sepiapterin reductase deficiency: A Treatable Mimic of Cerebral Palsy Jennifer Friedman, Emmanuel Roze, José E. Abdenur, Annals of Neurology	2011	154
Mutations in TFAM, encoding mitochondrial transcription factor A, cause neonatal liver failure associated with mtDNA depletion Ashlee R. Stiles, Mariella Simon, Alexander E. Stover, Molecular Genetics and Metabolism Genome InstabilityMtdna DepletionHepatologyMitochondrial FunctionMitochondrial Biogenesis	2016	119
A Homozygous Mutation in KCTD7 Links Neuronal Ceroid Lipofuscinosis to the Ubiquitin-Proteasome System John F. Staropoli, Amel Karaa, Elaine T. Lim, The American Journal of Human Genetics Molecular NeuroscienceMedicineNatural SciencesHomozygous MutationMolecular Biology	2012	113
Mutations of Human NARS2, Encoding the Mitochondrial Asparaginyl-tRNA Synthetase, Cause Nonsyndromic Deafness and Leigh Syndrome Mariella Simon, Élodie M. Richard, Xinjian Wang, PLoS Genetics Neurodegenerative DiseasesMendelian DisorderMitochondrial BiogenesisMitochondrial FunctionGenetic Disorder	2015	113

Page 1