José E. Abdenur

Also affiliated with Children’s Institute, University of California, Irvine, University of California, Irvine Medical Center

Biochemistry, Genetics and Molecular BiologyMedicine

Pilot corpus only

This score is computed over theSindex pilot corpus and does not cover the full scientific literature. Scores are relative to papers we have ingested — papers, authors, and institutions outside the pilot are not represented. Methodology.

Top 100%percentile

0Author DataRank

Indexed papers

0in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Papers

Driven by 6 papers. Top paper: “ECHS1 disease in two unrelated families of Samoan descent: Common variant ‐ rare disorder”.

ECHS1 disease in two unrelated families of Samoan descent: Common variant ‐ rare disorder

American Journal of Medical Genetics Part A(2020)10.1002/ajmg.a.61936

N/A

0.500DataRank · unranked

27 citations

Shaya S. Eftekharian, Sacha Ferdinandusse, Sha Tang, Take Naseri, Muagututi‘a Sefuiva Reupena +12 more

Medical nutrition therapy in patients with HIBCH and ECHS1 defects: Clinical and biochemical response to low valine diet

Molecular Genetics and Metabolism Reports(2020)10.1016/j.ymgmr.2020.100617

N/A

0DataRank · unranked

29 citations

Mary Sowa, Mariella Simon, Maija Steenari, Janette Skaar, Shaya S. Eftekharian +4 more

Association Between Lysine Reduction Therapies and Cognitive Outcomes in Patients With Pyridoxine-Dependent Epilepsy

Neurology(2022)10.1212/wnl.0000000000201222

N/A

0DataRank · unranked

42 citations

Laura A. Tseng, Levinus A. Bok, Hans Hartmann, Emma Footitt, Pasquale Striano +18 more

Timing of therapy and neurodevelopmental outcomes in 18 families with pyridoxine-dependent epilepsy

Molecular Genetics and Metabolism(2022)10.1016/j.ymgme.2022.02.005

N/A

0DataRank · unranked

27 citations

José E. Abdenur, Ashley Andrews, Verena G. Aziz, Levinus A. Bok, Monica Boyer +13 more

Feasibility of newborn screening for pyridoxine-dependent epilepsy

Molecular Genetics and Metabolism(2024)10.1016/j.ymgme.2024.109002

N/A

0DataRank · unranked

10 citations

Michael Woontner, José E. Abdenur, Bimal P. Chaudhari, Rachel Gosselin, Kimberly A. Kripps +5 more

Evaluating and monitoring liver disease severity in glycogen storage disease type IX: Performance of novel and established clinical scores

Genetics in Medicine Open(2025)10.1016/j.gimo.2025.103455

N/A

0DataRank · unranked

0 citations

Rebecca L. Koch, Alisha Mavis, Leticia S. Flores, Rajan T. Gupta, William R. Jeck +13 more