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J. Abdenur · SciRah

Researcher profile · Semantic Scholar

J. Abdenur

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J. Abdenur — researcher profile on SciRah

h-index: 35
Works: 116
Citations: 4,494

Most-cited papers

Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics
P. Kishnani, S. Austin, J. Abdenur, P. Arn +11 more
2014Genetics in Medicine442 citations Open access
Semantic Scholar
Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project
D. McHugh, C. Cameron, J. Abdenur, M. Abdulrahman +242 more
2011Genetics in Medicine338 citations Open access
Semantic Scholar
Molecular and Clinical Genetics of Mitochondrial Diseases Due to POLG Mutations
Lee-Jun C. Wong, Robert K. Naviaux, N. Brunetti-Pierri, Qing Zhang +17 more
2008Human Mutation303 citations Open access
Semantic Scholar
Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan.
K. Carss, E. Stevens, A. Foley, S. Çırak +31 more
2013American Journal of Human Genetics219 citations Open access
Semantic Scholar
Initial experience in the treatment of inherited mitochondrial disease with EPI-743.
G. Enns, S. Kinsman, S. Perlman, K. Spicer +9 more
2012Molecular Genetics and Metabolism201 citations Open access
Semantic Scholar
Genetics in Medicine : Official Journal of the American College of Medical Genetics
D. McHugh, C. Cameron, J. Abdenur, M. Abdulrahman +15 more
2011199 citations
Semantic Scholar
Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency
L. Brun, L. Ngu, W. Keng, G. Ch'ng +21 more
2010Neurology191 citations Open access
Semantic Scholar
Sepiapterin reductase deficiency: A Treatable Mimic of Cerebral Palsy
J. Friedman, E. Roze, J. Abdenur, R. Chang +25 more
2012Annals of Neurology140 citations Open access
Semantic Scholar
Mutations in TFAM, encoding mitochondrial transcription factor A, cause neonatal liver failure associated with mtDNA depletion.
Ashlee R. Stiles, M. Simon, Alexander E. Stover, S. Eftekharian +9 more
2016Molecular Genetics and Metabolism126 citations
Semantic Scholar
A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system.
J. Staropoli, A. Karaa, Elaine T. Lim, Andrew W. Kirby +11 more
2012American Journal of Human Genetics113 citations Open access
Semantic Scholar
Mutations of Human NARS2, Encoding the Mitochondrial Asparaginyl-tRNA Synthetase, Cause Nonsyndromic Deafness and Leigh Syndrome
M. Simon, Elodie M. Richard, Xinjian Wang, M. Shahzad +34 more
2015PLoS Genetics111 citations Open access
Semantic Scholar
Consensus guidelines for the diagnosis and management of pyridoxine‐dependent epilepsy due to α‐aminoadipic semialdehyde dehydrogenase deficiency
C. Coughlin, Laura A. Tseng, J. Abdenur, C. Ashmore +33 more
2020Journal of Inherited Metabolic Disease100 citations Open access
Semantic Scholar
Safety and efficacy of enzyme replacement therapy in combination with hematopoietic stem cell transplantation in Hurler syndrome
S. Grewal, R. Wynn, J. Abdenur, B. Burton +14 more
2005Genetics in Medicine94 citations Open access
Semantic Scholar
Mitochondrial Complex III Deficiency Caused by a Homozygous UQCRC2 Mutation Presenting with Neonatal‐Onset Recurrent Metabolic Decompensation
N. Miyake, S. Yano, C. Sakai, Hideyuki Hatakeyama +14 more
2013Human Mutation89 citations
Semantic Scholar
Tetrahydrobiopterin: Beyond Its Traditional Role as a Cofactor
Tuany Eichwald, Lucila de Bortoli da Silva, Ananda Staats-Pires, L. Niero +7 more
2023Antioxidants78 citations Open access
Semantic Scholar
Triheptanoin Treatment in Patients with Pediatric Cardiomyopathy Associated with Long Chain-Fatty Acid Oxidation Disorders
J. Vockley, J. Charrow, Jaya Ganesh, M. Eswara +9 more
2016Molecular Genetics and Metabolism76 citations Open access
Semantic Scholar
Expanded clinical and molecular spectrum of guanidinoacetate methyltransferase (GAMT) deficiency.
S. Dhar, F. Scaglia, Fangyuan Li, Laurie D. Smith +11 more
2009Molecular Genetics and Metabolism72 citations
Semantic Scholar
Evidence for genetic heterogeneity in D‐2‐hydroxyglutaric aciduria
M. Kranendijk, E. Struys, K. Gibson, Wjera V. Wickenhagen +19 more
2010Human Mutation71 citations
Semantic Scholar
Biochemical, molecular, and clinical characteristics of children with short chain acyl-CoA dehydrogenase deficiency detected by newborn screening in California.
N. Gallant, Karen B Leydiker, Hao Tang, L. Feuchtbaum +10 more
2012Molecular Genetics and Metabolism68 citations
Semantic Scholar
Maple syrup urine disease: further evidence that newborn screening may fail to identify variant forms.
R. Puckett, F. Lorey, P. Rinaldo, M. Lipson +6 more
2010Molecular Genetics and Metabolism67 citations
Semantic Scholar
Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations
M. Huemer, D. Karall, A. Schossig, J. Abdenur +22 more
2015Journal of Inherited Metabolic Disease56 citations Open access
Semantic Scholar
ALG1‐CDG: Clinical and Molecular Characterization of 39 Unreported Patients
B. Ng, S. Shiryaev, D. Rymen, E. Eklund +55 more
2016Human Mutation54 citations Open access
Semantic Scholar
Infants suspected to have very-long chain acyl-CoA dehydrogenase deficiency from newborn screening.
J. L. Merritt, S. Vedal, J. Abdenur, S. Au +8 more
2014Molecular Genetics and Metabolism52 citations
Semantic Scholar
Treatment reduces or stabilizes brain imaging abnormalities in patients with MPS I and II.
Raymond Y. Wang, E. J. Cambray-Forker, Kirk Ohanian, David S. Karlin +3 more
2009Molecular Genetics and Metabolism48 citations
Semantic Scholar
The mitochondrial 13513G>A mutation is associated with Leigh disease phenotypes independent of complex I deficiency in muscle.
A. Brautbar, Jing Wang, J. Abdenur, R. Chang +6 more
2008Molecular Genetics and Metabolism48 citations
Semantic Scholar
Mudd’s disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotes
Yin-Hsiu Chien, J. Abdenur, F. Baronio, A. Bannick +35 more
2015Orphanet Journal of Rare Diseases46 citations Open access
Semantic Scholar
Pearson syndrome: unique endocrine manifestations including neonatal diabetes and adrenal insufficiency.
T. Williams, M. Daniels, G. Puthenveetil, R. Chang +2 more
2012Molecular Genetics and Metabolism45 citations
Semantic Scholar
Novel mutations in the mitochondrial complex I assembly gene NDUFAF5 reveal heterogeneous phenotypes
M. Simon, S. Eftekharian, Alexander E. Stover, A. Osborne +9 more
2018Molecular Genetics and Metabolism40 citations Open access
Semantic Scholar
Aromatic l-aminoacid decarboxylase deficiency: unusual neonatal presentation and additional findings in organic acid analysis.
J. Abdenur, N. Abeling, N. Spécola, L. Jorge +3 more
2006Molecular Genetics and Metabolism40 citations
Semantic Scholar
Two-tier approach to the newborn screening of methylenetetrahydrofolate reductase deficiency and other remethylation disorders with tandem mass spectrometry.
S. Tortorelli, Coleman T. Turgeon, J. Lim, S. Baumgart +11 more
2010Jornal de Pediatria39 citations
Semantic Scholar
Response to medical and a novel dietary treatment in newborn screen identified patients with ethylmalonic encephalopathy.
M. Boyer, M. Sowa, I. Di Meo, S. Eftekharian +3 more
2018Molecular Genetics and Metabolism37 citations
Semantic Scholar
Successful diagnosis of HIBCH deficiency from exome sequencing and positive retrospective analysis of newborn screening cards in two siblings presenting with Leigh’s disease
Ashlee R. Stiles, S. Ferdinandusse, A. Besse, V. Appadurai +4 more
2015Molecular Genetics and Metabolism36 citations Open access
Semantic Scholar
Association Between Lysine Reduction Therapies and Cognitive Outcomes in Patients With Pyridoxine-Dependent Epilepsy
C. Coughlin, Laura A. Tseng, L. Bok, H. Hartmann +19 more
2022Neurology35 citations Open access
Semantic Scholar
New Cases of DHTKD1 Mutations in Patients with 2-Ketoadipic Aciduria.
Ashlee R. Stiles, L. Venturoni, G. Mucci, N. Elbalalesy +3 more
2015JIMD Reports35 citations Open access
Semantic Scholar
Further evidence of Fukutin mutations as a cause of childhood onset limb-girdle muscular dystrophy without mental retardation
R. Puckett, S. Moore, T. Winder, T. Willer +4 more
2009Neuromuscular Disorders35 citations Open access
Semantic Scholar
An overview of combined D-2- and L-2-hydroxyglutaric aciduria: functional analysis of CIC variants
A. Pop, Monique Williams, E. Struys, M. Monné +21 more
2017Journal of Inherited Metabolic Disease34 citations Open access
Semantic Scholar
Treatment outcome of twenty-two patients with guanidinoacetate methyltransferase deficiency: An international retrospective cohort study.
Y. Khaikin, S. Sidky, J. Abdenur, A. Anastasi +22 more
2018European journal of paediatric neurology33 citations Open access
Semantic Scholar
Biochemical characteristics of newborns with carnitine transporter defect identified by newborn screening in California.
N. Gallant, K. Leydiker, Y. Wilnai, C. Lee +10 more
2017Molecular Genetics and Metabolism29 citations
Semantic Scholar
Krabbe disease: clinical, biochemical and molecular information on six new patients and successful retrospective diagnosis using stored newborn screening cards.
R. Puckett, Joseph J. Orsini, G. Pastores, Raymond Y. Wang +7 more
2012Molecular Genetics and Metabolism28 citations
Semantic Scholar
Medical nutrition therapy in patients with HIBCH and ECHS1 defects: Clinical and biochemical response to low valine diet
J. Abdenur, M. Sowa, M. Simon, M. Steenari +5 more
2020Molecular Genetics and Metabolism Reports27 citations Open access
Semantic Scholar
Rapid identification of mitochondrial DNA (mtDNA) mutations in neuromuscular disorders by using surveyor strategy.
S. Bannwarth, Vincent Procaccio, C. Rouzier, K. Fragaki +16 more
2008Mitochondrion (Amsterdam. Print)26 citations
Semantic Scholar
Timing of therapy and neurodevelopmental outcomes in 18 families with pyridoxine-dependent epilepsy.
Laura A. Tseng, J. Abdenur, A. Andrews, Verena G. Aziz +14 more
2022Molecular Genetics and Metabolism24 citations Open access
Semantic Scholar
ECHS1 disease in two unrelated families of Samoan descent: Common variant-rare disorder
M. Simon, S. Eftekharian, S. Ferdinandusse, Sha Tang +12 more
2020American Journal of Medical Genetics. Part A24 citations Open access
Semantic Scholar
Activation of a cryptic splice site in the mitochondrial elongation factor GFM1 causes combined OXPHOS deficiency
M. Simon, B. Ng, Marisa W. Friederich, Raymond Y. Wang +11 more
2017Mitochondrion (Amsterdam. Print)23 citations Open access
Semantic Scholar
Severe, fatal multisystem manifestations in a patient with dolichol kinase-congenital disorder of glycosylation
Michelle T Lieu, B. Ng, J. Rush, T. Wood +6 more
2013Molecular Genetics and Metabolism23 citations Open access
Semantic Scholar
The natural history of infantile mitochondrial DNA depletion syndrome due to RRM2B deficiency
Nandaki Keshavan, J. Abdenur, G. Anderson, Z. Assouline +20 more
2019Genetics in Medicine20 citations Open access
Semantic Scholar
Reduction in newborn screening metabolic false-positive results following a new collection protocol
Mindy Morris, K. Fischer, Karen B Leydiker, Lisa Elliott +2 more
2013Genetics in Medicine19 citations Open access
Semantic Scholar
Clinical, genetic, and pathologic characterization of FKRP Mexican founder mutation c.1387A>G
Angela J. Lee, Karra A. Jones, R. Butterfield, Mary O. Cox +17 more
2019Neurology: Genetics18 citations Open access
Semantic Scholar
Structural (βα)8 TIM Barrel Model of 3-Hydroxy-3-methylglutaryl-Coenzyme A Lyase*
N. Casals, Paulino Gómez-Puertas, J. Pié, Cecilia Mir +16 more
2003Journal of Biological Chemistry17 citations Open access
Semantic Scholar
Whole exome sequencing reveals compound heterozygous mutations in SLC19A3 causing biotin-thiamine responsive basal ganglia disease
L. Sremba, R. Chang, N. Elbalalesy, E. J. Cambray-Forker +1 more
2014Molecular Genetics and Metabolism Reports16 citations Open access
Semantic Scholar

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