José E. Abdenur

4.5k citations

63 papers · 1.8k indexed · h-index 24

Impact in

Clinical Biochemistry top 0.2%
- Metabolism and Genetic Disorders
Rheumatology top 2%
- Glycogen Storage Diseases and Myoclonus
- Folate and B Vitamins Research

Papers in

Clinical Biochemistry 43
- Metabolism and Genetic Disorders 43
Rheumatology 15
- Folate and B Vitamins Research 12

Co-authors: Richard Chang Raymond Wang Priya S. Kishnani Stephanie Austin Stephanie Burns Wechsler Deeksha Bali Joseph I. Wolfsdorf Michael J.G. Somers
Journals: Molecular Genetics and Metabolism (24 papers)The Journal of Clinical Endocrinology & Metabolism (4 papers)Genetics in Medicine (3 papers)Journal of Inherited Metabolic Disease (2 papers)Mitochondrion (2 papers)
Partner nations: United States Netherlands Argentina

In The Last Decade

José E. Abdenur

60 papers receiving 1.8k citations

Peers

Countries citing papers authored by José E. Abdenur

Since Specialization

Citations

This map shows the geographic impact of José E. Abdenur's research. It shows the number of citations coming from papers published by authors working in each country. You can also color the map by specialization and compare the number of citations received by José E. Abdenur with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites José E. Abdenur more than expected).

Fields of papers citing papers by José E. Abdenur

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by José E. Abdenur. Nodes represent research fields, and links connect fields that are likely to share authors. Colored nodes show fields that tend to cite the papers produced by José E. Abdenur. The network helps show where José E. Abdenur may publish in the future.

Co-authorship network

The 25 scholars most cited alongside José E. Abdenur, linked wherever they have co-authored with each other. Click a name or a connecting line to browse the papers they share.

Border = papers with José E. Abdenur Line = papers co-authored together José E. Abdenur links everyone, so they are left out of the graph.

All Works

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20 of 20 papers shown

#	Work
1	Maternal metabolic conditions identified by newborn screening Molecular Genetics and Metabolism ·D. Ames, Anita Raja, A. M. Hennequin, José E. Abdenur	2025	0
2	Aminolevulinate/iron exposure elicited Nrf-2-mediated cytoprotection in DARS2 deficient fibroblasts with impaired energy and antioxidant metabolisms Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease ·Weilin Huang, Tuany Eichwald, Alexander E. Stover, Frederic William Moorman, Philip H. Schwartz, Alexandra Latini, José E. Abdenur	2025	0
3	Leukoencephalopathy with Brain stem and Spinal cord involvement and Lactate elevation (LBSL): Report of a new family and a novel DARS2 mutation Molecular Genetics and Metabolism Reports ·Ramesh Masuna, 中村正寿, Anita Raja, Mariella Simon, Richard Chang, Magdalena Agardh, Alexander E. Stover, Philip H. Schwartz, Alexandra Latini, José E. Abdenur	2023	2
4	The biochemical profile and dietary management in S-adenosylhomocysteine hydrolase deficiency Molecular Genetics and Metabolism Reports ·Victor Gabriel de Freitas Siqueira, Richard Chang, José E. Abdenur	2022	1
5	Biochemical characteristics of newborns with carnitine transporter defect identified by newborn screening in California Molecular Genetics and Metabolism ·Natalie M. Gallant, سمیه رسولی ابراهیمی فرد, Yael Wilnai, Harri Veivo, Fred Lorey, Lisa Feuchtbaum, Hao Tang, Felismina Saraiva Soares, Gregory M. Enns, Seymour Packman, Henry J. Lin, William R. Wilcox, Stephen D. Cederbaum, José E. Abdenur	2017	20
6	Triheptanoin treatment in patients with pediatric cardiomyopathy associated with long chain-fatty acid oxidation disorders Molecular Genetics and Metabolism ·Jerry Vockley, Joel Charrow, Abhishek Divekar, 品种管理处, George A. Díaz, Elizabeth McCracken, Robert L. Conway, Gregory M. Enns, Joanne P. Starr, Xiaowei Song, José E. Abdenur, Joan Sánchez-de-Toledo, Deborah Marsden	2016	67
7	Mutations in TFAM, encoding mitochondrial transcription factor A, cause neonatal liver failure associated with mtDNA depletion Molecular Genetics and Metabolism ·Ashlee R. Stiles, Mariella Simon, Alexander E. Stover, Magdalena Agardh, Négar Khanlou, Hanlin L. Wang, Shino Magaki, Hane Lee, Predrag Dobratic, A. Y. Joshi, Richard Chang, Julián A. Martínez-Agosto, José E. Abdenur	2016	87
8	Successful diagnosis of HIBCH deficiency from exome sequencing and positive retrospective analysis of newborn screening cards in two siblings presenting with Leigh's disease Molecular Genetics and Metabolism ·Ashlee R. Stiles, Sacha Ferdinandusse, Arnaud Besse, Vivek Appadurai, سمیه رسولی ابراهیمی فرد, Kathleen M. Semmens, Penelope E. Bonnen, José E. Abdenur	2015	29
9	Prevention of metabolic decompensation in an infant with mutase deficient methylmalonic aciduria undergoing cardiopulmonary bypass World Journal of Pediatrics ·Raymond Wang, Richard Chang, Lie-ju, Anthony Chang, José E. Abdenur	2014	3
10	Infants suspected to have very-long chain acyl-CoA dehydrogenase deficiency from newborn screening Molecular Genetics and Metabolism ·J. Lawrence Merritt, Sverre Vedal, José E. Abdenur, Sylvia Mann Au, Bruce A. Barshop, Lisa Feuchtbaum, Cary O. Harding, A.G. Kajoyan, Fred Lorey, David E. Sesser, Koyano Wataru, Bjørn Håkon Solberg	2014	43
11	Reduction in newborn screening metabolic false-positive results following a new collection protocol Genetics in Medicine ·Alan Needleman, Kristin Fischer, سمیه رسولی ابراهیمی فرد, Lisa Elliott, Ling Dong-hu, José E. Abdenur	2013	15
12	A Homozygous Mutation in KCTD7 Links Neuronal Ceroid Lipofuscinosis to the Ubiquitin-Proteasome System The American Journal of Human Genetics ·John F. Staropoli, Amel Karaa, Elaine T. Lim, Andrew Kirby, K Summer, Stephen G. Romansky, سمیه رسولی ابراهیمی فرد, Jessica G Santos, Zongqi Han, Winnie Xin, Marcy E. MacDonald, José E. Abdenur, Mark J. Daly, Katherine B. Sims, Susan L. Cotman	2012	84
13	Pearson syndrome: Unique endocrine manifestations including Neonatal Diabetes and adrenal insufficiency Molecular Genetics and Metabolism ·T. Williams, Mark Daniels, Geetha Puthenveetil, Richard Chang, Raymond Wang, José E. Abdenur	2012	31
14	Two-Tier Approach to the Newborn Screening of Methylenetetrahydrofolate Reductase Deficiency and Other Remethylation Disorders with Tandem Mass Spectrometry The Journal of Pediatrics ·Silvia Tortorelli, Coleman Turgeon, Linné Lössner, 오홍식, Ankur Wats, José E. Abdenur, Jonathan A. Bernstein, Fred Lorey, Uta Lichter‐Konecki, Devin Oglesbee, Kimiyo Raymond, Dietrich Matern, Lisa A. Schimmenti, Piero Rinaldo, Dimitar K. Gavrilov	2010	25
15	The mitochondrial 13513G>A mutation is associated with Leigh disease phenotypes independent of complex I deficiency in muscle Molecular Genetics and Metabolism ·Ariel Brautbar, Jing Wang, José E. Abdenur, Richard Chang, Janet A. Thomas, Theresa A. Grebe, Cynthia Lim, Shao‐Wen Weng, Brett H. Graham, Lee‐Jun C. Wong	2008	35
16	Expanded clinical and molecular spectrum of guanidinoacetate methyltransferase (GAMT) deficiency Molecular Genetics and Metabolism ·Shweta U. Dhar, Fernando Scaglia, Han Xiao, Laurie D. Smith, Bruce A. Barshop, Christine M. Eng, Richard Haas, Jill V. Hunter, Timothy Lotze, Bruno Maranda, Mary Willis, José E. Abdenur, B. Schmitz, Wendy J. O’Brien, A. R. Lee	2008	45
17	Safety and efficacy of enzyme replacement therapy in combination with hematopoietic stem cell transplantation in Hurler syndrome Genetics in Medicine ·Satkiran S. Grewal, Robert Wynn, José E. Abdenur, Barbara K. Burton, Maged I. Gharib, Claudia M. Haase, Robert J. Hayashi, Shalini Shenoy, David Sillence, George E. Tiller, Ziyi Ding, Annet van Royen‐Kerkhof, J. E. Wraith, Paul Woodard, Guy Young, Nico Wulffraat, Chester B. Whitley, Charles Peters	2005	74
18	Screening for the mitochondrial DNA A3243G mutation in children with insulin-dependent diabetes mellitus Metabolism ·Shofia Zailanty, Philip D. Cotter, Nicolás Yáñez Viveros, Oktarika Ayoe Sandha, Fredda Ginsberg‐Fellner, Robert J. Desnick, José E. Abdenur	1997	6
19	MOLECULAR PRENATAL DIAGNOSIS OF GLYCOGEN STORAGE DISEASE TYPE Ia Prenatal Diagnosis ·Haruo Koizumi, José E. Abdenur, J.J. Grandville, Robert J. Desnick	1996	15
20	The Relationship Between Beta-Endorphin and the Growth Hormone (GH) Response to gh Releasing Hormone in Prepubertal Children Endocrine Research ·M Pugliese, José E. Abdenur, Pavel Fort, Fima Lifshitz	1992	3

About José E. Abdenur

José E. Abdenur is a scholar working on Clinical Biochemistry, Rheumatology, Pediatrics, Perinatology and Child Health, Biochemistry and Molecular Biology, having authored 63 papers that have together received 1.8k indexed citations. Recurring topics across this work include Metabolism and Genetic Disorders (43 papers), Mitochondrial Function and Pathology (19 papers), Folate and B Vitamins Research (12 papers), Neonatal Health and Biochemistry (10 papers), Biochemical and Molecular Research (7 papers), ATP Synthase and ATPases Research (7 papers), Growth Hormone and Insulin-like Growth Factors (6 papers) and Lysosomal Storage Disorders Research (5 papers). The work is most often cited by research in Clinical Biochemistry (818 citations), Rheumatology (454 citations), Biochemistry (134 citations), Physiology (446 citations) and Molecular Biology (978 citations). José E. Abdenur has collaborated with scholars based in United States, Netherlands and Argentina. Frequent co-authors include Richard Chang, Raymond Wang, Priya S. Kishnani, Stephanie Austin, Stephanie Burns Wechsler, Deeksha Bali, Joseph I. Wolfsdorf, Michael J.G. Somers, Aditi I Dagli and David A. Weinstein. Their work appears in journals such as Molecular Genetics and Metabolism, The Journal of Clinical Endocrinology & Metabolism, Genetics in Medicine, Journal of Inherited Metabolic Disease and Mitochondrion.

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