JoseE.AbdenurMD

PubMed

• Leukoencephalopathy with Brain stem and Spinal cord involvement and Lactate elevation (LBSL): Report of a new family and a novelmutation.
  Huang, W., Barrick, R., Simon, M., Chang, R., Eftekharian, S., Stover, A., Schwartz, P., Latini, A., Steenari, M., Abdenur, J.> ;Molecular Genetics and Metabolism Reports. 2024 Mar 1
• Misdiagnosis of Total Parental Nutrition-Related Riboflavin Deficiency: Three Case Reports of Diagnostic Error.
  Grant J Shafer, Jose E Abdenur, Vijay Dhar, Michel Mikhael> ;AJP Reports. 2023 Jan 1
• 6 citations
  Association Between Lysine Reduction Therapies and Cognitive Outcomes in Patients With Pyridoxine-Dependent Epilepsy.
  Coughlin, C., Tseng, L., Bok, L., Hartmann, H., Footitt, E., Striano, P., Tabarki, B., Lunsing, R., Stockler-Ipsiroglu, S., Gordon, S., Van Hove, J., Abdenur, J., Boye...> ;Neurology. 2022 Dec 5
• 1 citations
  The biochemical profile and dietary management in S-adenosylhomocysteine hydrolase deficiency.
  Yue Huang, Richard Chang, Jose E Abdenur> ;Molecular Genetics and Metabolism Reports. 2022 Sep 1
• 10 citations
  Timing of therapy and neurodevelopmental outcomes in 18 families with pyridoxine-dependent epilepsy.
  Laura A Tseng, Jose E Abdenur, Ashley Andrews, Verena G Aziz, Levinus A Bok, Monica Boyer, Daniela Buhas, Hans Hartmann, Emma J Footitt, Sabine Grønborg, Mirian C H Ja...> ;Molecular Genetics and Metabolism. 2022 Apr 1
• 5 citations
  Population-level deficit of homozygosity unveils CPSF3 as an intellectual disability syndrome gene.
  Gudny A Arnadottir, Asmundur Oddsson, Brynjar O Jensson, Svanborg Gisladottir, Mariella T Simon, Asgeir O Arnthorsson, Hildigunnur Katrinardottir, Run Fridriksdottir, ...> ;Nature Communications. 2022 Feb 4
• 33 citations
  Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency
  Curtis R. Coughlin, Laura A. Tseng, Jose E. Abdenur, Catherine Ashmore, François Boemer, Levinus A. Bok, Monica Boyer, Daniela Buhas, Peter E. Clayton, Anibh M. Das, H...> ;Journal of Inherited Metabolic Disease. 2021 Jan 1
• 13 citations
  Medical nutrition therapy in patients with HIBCH and ECHS1 defects: Clinical and biochemical response to low valine diet.
  Jose E. Abdenur, Mary Sowa, M. Simon, Maija R. Steenari, J. Skaar, S. Eftekharian, Richard Chang, Sacha Ferdinandusse, James Pitt> ;Molecular Genetics and Metabolism Reports. 2020 Jul 3
• 4 citations
  Primary adrenal insufficiency in two siblings with D-bifunctional protein deficiency
  Cristel C. Chapel-Crespo, Ricardo Villalba, Raymond Y. Wang, Monica Boyer, Richard Chang, Hans R. Waterham, Jose E. Abdenur> ;Molecular Genetics and Metabolism Reports. 2020 Sep 1
• 11 citations
  The natural history of infantile mitochondrial DNA depletion syndrome due to RRM2B deficiency
  Nandaki Keshavan, Jose E. Abdenur, Glenn Anderson, Zahra Assouline, Giulia Barcia, Lamia Bouhikbar, Anupam Chakrapani, Maureen Cleary, Marta C. Cohen, François Feillet...> ;Genetics in Medicine. 2020 Jan 1
• 8 citations
  Clinical, Biochemical and Molecular Characteristics of malonyl-CoA Decarboxylase Deficiency and Long-Term Follow-Up of Nine Patients
  Cristel C. Chapel-Crespo, Dimitar Gavrilov, Mary Sowa, Jessica Myers, Debra-Lynn Day-Salvatore, Haley Lynn, Debra S Regier, Danielle Starin, Maija R. Steenari, Kees Sc...> ;Molecular Genetics and Metabolism. 2019 Jan 1
• 11 citations
  Clinical, genetic, and pathologic characterization of FKRP Mexican founder mutation c.1387A>G.
  Angela J. Lee, Karra A. Jones, Russell J. Butterfield, Mary O. Cox, Chamindra G. Konersman, Carla Grosmann, Jose E. Abdenur, Monica Boyer, Brent Beson, Ching Wang, Jam...> ;Neurology. Genetics. 2019 Mar 1
• 33 citations
  Novel mutations in the mitochondrial complex I assembly gene NDUFAF5 reveal heterogeneous phenotypes.
  Mariella Simon, S. Eftekharian, Alexander Stover, Aaron F. Osborne, Bruce H. Braffman, Richard Chang, Raymond Y. Wang, Maija R. Steenari, Sha Tang, Paul Wuh-Liang Hwu,...> ;Molecular Genetics and Metabolism. 2019 Jan 1
• 20 citations
  Treatment outcome of twenty-two patients with guanidinoacetate methyltransferase deficiency: An international retrospective cohort study.
  Yannay Khaikin, Sarah Sidky, Jose E. Abdenur, Arnaud Anastasi, Diana Ballhausen, Sabrina Buoni, Alicia Chan, David Cheillan, Nathalie Dorison, Alice Goldenberg, Jennif...> ;European Journal of Paediatric Neurology. 2018 May 1
• 28 citations
  Response to medical and a novel dietary treatment in newborn screen identified patients with ethylmalonic encephalopathy
  Monica Boyer, Mary Sowa, I. Di Meo, S. Eftekharian, Maija R. Steenari, Valeria Tiranti, Jose E. Abdenur> ;Molecular Genetics and Metabolism. 2018 May 1
• 21 citations
  An overview of combined D-2- and L-2-hydroxyglutaric aciduria: functional analysis of CIC variants
  Ana Pop, Monique Williams, Eduard A. Struys, Magnus Monné, Erwin E.W. Jansen, Anna De Grassi, Warsha A. Kanhai, Pasquale Scarcia, Matilde R. Fernandez Ojeda, Vito Porc...> ;Journal of Inherited Metabolic Disease. 2018 Mar 1
• 17 citations
  Biochemical characteristics of newborns with carnitine transporter defect identified by newborn screening in California
  Natalie M. Gallant, Karen Leydiker, Yael Wilnai, Chung Lee, Fred Lorey, Lisa Feuchtbaum, H. Tang, Jennifer M. Carter, Gregory M. Enns, Seymour Packman, H.J. Lin, Willi...> ;Molecular Genetics and Metabolism. 2017 Nov 1
• 17 citations
  Activation of a cryptic splice site in the mitochondrial elongation factor GFM1 causes combined OXPHOS deficiency.
  Mariella Simon, Bobby G. Ng, Marisa W. Friederich, Raymond Y. Wang, Monica Boyer, Martin Kircher, Renata Collard, Kati J. Buckingham, Richard Chang, Jay Shendure, Debo...> ;Mitochondrion. 2017 May 1
• 6 citations
  A neurodevelopmental disorder with a nonsense mutation in the Ox-2 antigen domain of the amyloid precursor protein (APP) gene
  Khue Vu Nguyen, Karen Leydiker, Raymond Y. Wang, Jose E. Abdenur, William L. Nyhan> ;Nucleosides, Nucleotides & Nucleic Acids. 2017 Jan 19
• 56 citations
  Triheptanoin treatment in patients with pediatric cardiomyopathy associated with long chain-fatty acid oxidation disorders
  Jerry Vockley, Joel Charrow, Jaya Ganesh, George A. Diaz, Elizabeth McCracken, R. Conway, Gregory M. Enns, J. Starr, Raymond Y. Wang, Jose E. Abdenur, Joan Sanchez-de-...> ;Molecular Genetics and Metabolism. 2016 Nov 1
• 74 citations
  Mutations in TFAM, encoding mitochondrial transcription factor A, cause neonatal liver failure associated with mtDNA depletion
  Ashlee R. Stiles, Mariella Simon, Alexander Stover, S. Eftekharian, Negar Khanlou, Hanlin L. Wang, Shino Magaki, Hane Lee, Kate Partynski, Nagmeh Dorrani, Richard Chan...> ;Molecular Genetics and Metabolism. 2016 Sep 1
• 34 citations
  ALG1-CDG: clinical and molecular characterization of 39 unreported patients
  Bobby G. Ng, Sergey A. Shiryaev, Daisy Rymen, Erik A. Eklund, Kimiyo Raymond, Martin Kircher, Jose E. Abdenur, Füsun Alehan, Alina T. Midro, Michael J. Bamshad, Rita B...> ;Human Mutation. 2016 Jul 1
• 31 citations
  Mudd’s disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotes
  Yin-Hsiu Chien, Jose E. Abdenur, Federico Baronio, Allison Anne Bannick, Fernando J. Corrales, María L. Couce, Markus G. Donner, Can Ficicioglu, Cynthia Freehauf, Debo...> ;Orphanet Journal of Rare Diseases. 2015 Aug 20
• 29 citations
  Successful diagnosis of HIBCH deficiency from exome sequencing and positive retrospective analysis of newborn screening cards in two siblings presenting with Leigh's d...
  Ashlee R. Stiles, Sacha Ferdinandusse, Arnaud Besse, Vivek Appadurai, Karen Leydiker, E.J. Cambray-Forker, Penelope E. Bonnen, Jose E. Abdenur> ;Molecular Genetics and Metabolism. 2015 Aug 1
• 25 citations
  New Cases of DHTKD1 Mutations in Patients with 2-Ketoadipic Aciduria
  Ashlee R. Stiles, Leah Venturoni, Grace Mucci, Naser Elbalalesy, Michael Woontner, Stephen I. Goodman, Jose E. Abdenur> ;JIMD Reports. 2015 Jul 5
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