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Items: 17

Select item 97457421.

Novel Presentations Associated with a PDHA1 variant – Alternating Hemiplegia in Hemizygote Proband and Guillain Barre Syndrome in Heterozygote Mother

Kuntal Sen, George Grahame, Jirair K. Bedoyan, Andrea L. Gropman

Eur J Paediatr Neurol. Author manuscript; available in PMC 2022 Dec 13.

Published in final edited form as: Eur J Paediatr Neurol. 2021 Mar; 31: 27–30. Published online 2021 Jan 22. doi: 10.1016/j.ejpn.2021.01.006

PMCID:: PMC9745742

Article PDF–125K

Select item 77742452.

Mitochondrial Medicine Therapies: Rationale, Evidence, and Dosing Guidelines

Isabella Barcelos, Edward Shadiack, Rebecca D. Ganetzky, Marni J. Falk

Curr Opin Pediatr. Author manuscript; available in PMC 2021 Dec 1.

Published in final edited form as: Curr Opin Pediatr. 2020 Dec; 32(6): 707–718. doi: 10.1097/MOP.0000000000000954

PMCID:: PMC7774245

Article PDF–597K

Select item 76532393.

Utility of specific amino acid ratios in screening for pyruvate dehydrogenase complex deficiencies and other mitochondrial disorders associated with congenital lactic acidosis and newborn screening prospects

Jirair K. Bedoyan, Rosemary Hage, Ha Kyung Shin, Sharon Linard, Edwin Ferren, Nicole Ducich, Kirkland Wilson, April Lehman, Lori‐Anne Schillaci, Kandamurugu Manickam, Mari Mori, Dennis Bartholomew, Suzanne DeBrosse, Bruce Cohen, Sumit Parikh, Douglas Kerr

JIMD Rep. 2020 Nov; 56(1): 70–81. Published online 2020 Aug 16. doi: 10.1002/jmd2.12153

PMCID:: PMC7653239

Article PDF–1.8M

Select item 72750854.

Energy metabolism and mitochondrial defects in X-linked Charcot-Marie-Tooth (CMTX6) iPSC-derived motor neurons with the p.R158H PDK3 mutation

G. Perez-Siles, A. Cutrupi, M. Ellis, R. Screnci, D. Mao, M. Uesugi, Eppie M. Yiu, Monique M. Ryan, B. O. Choi, G. Nicholson, M. L. Kennerson

Sci Rep. 2020; 10: 9262. Published online 2020 Jun 5. doi: 10.1038/s41598-020-66266-5

PMCID:: PMC7275085

Article PDF–11M

Select item 66069865.

A novel null mutation in the pyruvate dehydrogenase phosphatase catalytic subunit gene (PDP1) causing pyruvate dehydrogenase complex deficiency

Jirair K. Bedoyan, Leah Hecht, Shulin Zhang, Stacey Tarrant, Ann Bergin, Didem Demirbas, Edward Yang, Ha Kyung Shin, George J. Grahame, Suzanne D. DeBrosse, Charles L. Hoppel, Douglas S. Kerr, Gerard T. Berry

JIMD Rep. 2019 Jul; 48(1): 26–35. Published online 2019 Jun 17. doi: 10.1002/jmd2.12054

PMCID:: PMC6606986

Article PDF–1.7M

Select item 63837246.

Prenatal presentation of pyruvate dehydrogenase complex deficiency

Niranjana Natarajan, Hannah M. Tully, Teresa Chapman

Pediatr Radiol. Author manuscript; available in PMC 2019 Feb 21.

Published in final edited form as: Pediatr Radiol. 2016 Aug; 46(9): 1354–1357. Published online 2016 Mar 30. doi: 10.1007/s00247-016-3585-z

PMCID:: PMC6383724

Article PDF–452K

Select item 57226997.

Enzymatic Testing Sensitivity, Variability and Practical Diagnostic Algorithm for Pyruvate Dehydrogenase Complex (PDC) Deficiency

Ha Kyung Shin, George Grahame, Shawn E. McCandless, Douglas S. Kerr, Jirair K. Bedoyan

Mol Genet Metab. Author manuscript; available in PMC 2018 Nov 1.

Published in final edited form as: Mol Genet Metab. 2017 Nov; 122(3): 61–66. Published online 2017 Sep 8. doi: 10.1016/j.ymgme.2017.09.001

PMCID:: PMC5722699

Article PDF–671K

Select item 57052458.

Pyruvate dehydrogenase complex-E2 deficiency causes paroxysmal exercise-induced dyskinesia

Jennifer Friedman, Annette Feigenbaum, Nathaniel Chuang, Jennifer Silhavy, Joseph G. Gleeson

Neurology. 2017 Nov 28; 89(22): 2297–2298. doi: 10.1212/WNL.0000000000004689

PMCID:: PMC5705245

Article PDF–168K

Select item 53821059.

Lethal neonatal case and review of primary short-chain enoyl-CoA hydratase (SCEH) deficiency associated with secondary lymphocyte pyruvate dehydrogenase complex (PDC) deficiency

Jirair K. Bedoyan, Samuel P. Yang, Sacha Ferdinandusse, Rhona M. Jack, Alexander Miron, George Grahame, Suzanne D. DeBrosse, Charles L. Hoppel, Douglas S. Kerr, Ronald J. A. Wanders

Mol Genet Metab. Author manuscript; available in PMC 2018 Apr 1.

Published in final edited form as: Mol Genet Metab. 2017 Apr; 120(4): 342–349. Published online 2017 Feb 2. doi: 10.1016/j.ymgme.2017.02.002

PMCID:: PMC5382105

Article PDF–698K

Select item 530643010.

Ketogenic diet in pyruvate dehydrogenase complex deficiency: short- and long-term outcomes

Kalliopi Sofou, Maria Dahlin, Tove Hallböök, Marie Lindefeldt, Gerd Viggedal, Niklas Darin

J Inherit Metab Dis. 2017; 40(2): 237–245. Published online 2017 Jan 18. doi: 10.1007/s10545-016-0011-5

PMCID:: PMC5306430

Article PDF–634K

Select item 527456711.

Therapeutic applications of dichloroacetate and the role of glutathione transferase zeta-1

Margaret O. James, Stephan C. Jahn, Guo Zhong, Marci G. Smeltz, Zhiwei Hu, Peter W. Stacpoole

Pharmacol Ther. Author manuscript; available in PMC 2018 Feb 1.

Published in final edited form as: Pharmacol Ther. 2017 Feb; 170: 166–180. Published online 2016 Oct 19. doi: 10.1016/j.pharmthera.2016.10.018

PMCID:: PMC5274567

Article PDF–2.5M

Select item 512136512.

Somatic mosaicism for a novel PDHA1 mutation in a male with severe pyruvate dehydrogenase complex deficiency

Kristin K. Deeb, Jirair K. Bedoyan, Raymond Wang, Leighann Sremba, Molly C. Schroeder, George J. Grahame, Monica Boyer, Shawn E. McCandless, Douglas S. Kerr, Shulin Zhang

Mol Genet Metab Rep. 2014; 1: 362–367. Published online 2014 Aug 28. doi: 10.1016/j.ymgmr.2014.08.001

PMCID:: PMC5121365

Article PDF–476K

Select item 472899613.

Liver tumors in children with metabolic disorders

Deborah A. Schady, Angshumoy Roy, Milton J. Finegold

Transl Pediatr. 2015 Oct; 4(4): 290–303. doi: 10.3978/j.issn.2224-4336.2015.10.08

PMCID:: PMC4728996

Article PDF–3.9M

Select item 418477514.

Phenylbutyrate increases pyruvate dehydrogenase complex activity in cells harboring a variety of defects

Rosa Ferriero, Audrey Boutron, Michele Brivet, Douglas Kerr, Eva Morava, Richard J Rodenburg, Luisa Bonafé, Matthias R Baumgartner, Yair Anikster, Nancy E Braverman, Nicola Brunetti-Pierri

Ann Clin Transl Neurol. 2014 Jul; 1(7): 462–470. Published online 2014 Jun 19. doi: 10.1002/acn3.73

PMCID:: PMC4184775

Article PDF–388K

Select item 400349215.

The spectrum of pyruvate dehydrogenase complex deficiency: Clinical, biochemical and genetic features in 371 patients

Kavi P. Patel, Thomas W. O’Brien, Sankarasubramon H. Subramony, Jonathan Shuster, Peter W. Stacpoole

Mol Genet Metab. Author manuscript; available in PMC 2014 Apr 29.

Published in final edited form as: Mol Genet Metab. 2012 Jul; 106(3): 385–394. doi: 10.1016/j.ymgme.2012.03.017

PMCID:: PMC4003492

Article PDF–819K

Select item 381245216.

Mitochondrial respiratory chain disease discrimination by retrospective cohort analysis of blood metabolites

Colleen Clarke, Rui Xiao, Emily Place, Zhe Zhang, Neal Sondheimer, Michael Bennett, Marc Yudkoff, Marni J. Falk

Mol Genet Metab. Author manuscript; available in PMC 2014 Sep 1.

Published in final edited form as: Mol Genet Metab. 2013 Sep-Oct; 110(0): 10.1016/j.ymgme.2013.07.011. Published online 2013 Jul 19. doi: 10.1016/j.ymgme.2013.07.011