PubMed (Bookshelf cited) for id: 19610

Year	Number of Results
1993	2
1996	1
1997	1
2000	1
2003	1
2004	1
2008	2
2009	2
2010	2
2011	2
2012	3
2013	1
2014	4
2015	3
2016	4
2017	6
2019	2
2020	4
2021	1
2024	0

1

Novel presentations associated with a PDHA1 variant - Alternating hemiplegia in Hemizygote proband and Guillain Barre Syndrome in Heterozygote mother.

Sen K, Grahame G, Bedoyan JK, Gropman AL. Sen K, et al. Eur J Paediatr Neurol. 2021 Mar;31:27-30. doi: 10.1016/j.ejpn.2021.01.006. Epub 2021 Jan 22. Eur J Paediatr Neurol. 2021. PMID: 33592356 Free PMC article.

2

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.

Bedoyan JK, Hage R, Shin HK, Linard S, Ferren E, Ducich N, Wilson K, Lehman A, Schillaci LA, Manickam K, Mori M, Bartholomew D, DeBrosse S, Cohen B, Parikh S, Kerr D. Bedoyan JK, et al. JIMD Rep. 2020 Aug 16;56(1):70-81. doi: 10.1002/jmd2.12153. eCollection 2020 Nov. JIMD Rep. 2020. PMID: 33204598 Free PMC article.

3

Mitochondrial medicine therapies: rationale, evidence, and dosing guidelines.

Barcelos I, Shadiack E, Ganetzky RD, Falk MJ. Barcelos I, et al. Curr Opin Pediatr. 2020 Dec;32(6):707-718. doi: 10.1097/MOP.0000000000000954. Curr Opin Pediatr. 2020. PMID: 33105273 Free PMC article. Review.

4

Persistent Lactic Acidosis in an 18-month-old Girl Status Post Bone Marrow Transplant.

Murali CN, Ganetzky R. Murali CN, et al. Pediatr Rev. 2020 Oct;41(Suppl 1):S20-S22. doi: 10.1542/pir.2017-0283. Pediatr Rev. 2020. PMID: 33004573 No abstract available.

5

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

Perez-Siles G, Cutrupi A, Ellis M, Screnci R, Mao D, Uesugi M, Yiu EM, Ryan MM, Choi BO, Nicholson G, Kennerson ML. Perez-Siles G, et al. Sci Rep. 2020 Jun 5;10(1):9262. doi: 10.1038/s41598-020-66266-5. Sci Rep. 2020. PMID: 32504000 Free PMC article.

6

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

Bedoyan JK, Hecht L, Zhang S, Tarrant S, Bergin A, Demirbas D, Yang E, Shin HK, Grahame GJ, DeBrosse SD, Hoppel CL, Kerr DS, Berry GT. Bedoyan JK, et al. JIMD Rep. 2019 Jun 17;48(1):26-35. doi: 10.1002/jmd2.12054. eCollection 2019 Jul. JIMD Rep. 2019. PMID: 31392110 Free PMC article.

7

Genetic defects of thiamine transport and metabolism: A review of clinical phenotypes, genetics, and functional studies.

Marcé-Grau A, Martí-Sánchez L, Baide-Mairena H, Ortigoza-Escobar JD, Pérez-Dueñas B. Marcé-Grau A, et al. J Inherit Metab Dis. 2019 Jul;42(4):581-597. doi: 10.1002/jimd.12125. Epub 2019 Jun 24. J Inherit Metab Dis. 2019. PMID: 31095747 Review.

8

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

Friedman J, Feigenbaum A, Chuang N, Silhavy J, Gleeson JG. Friedman J, et al. Neurology. 2017 Nov 28;89(22):2297-2298. doi: 10.1212/WNL.0000000000004689. Epub 2017 Nov 1. Neurology. 2017. PMID: 29093066 Free PMC article. No abstract available.

9

Parental influence on human germline de novo mutations in 1,548 trios from Iceland.

Jónsson H, Sulem P, Kehr B, Kristmundsdottir S, Zink F, Hjartarson E, Hardarson MT, Hjorleifsson KE, Eggertsson HP, Gudjonsson SA, Ward LD, Arnadottir GA, Helgason EA, Helgason H, Gylfason A, Jonasdottir A, Jonasdottir A, Rafnar T, Frigge M, Stacey SN, Th Magnusson O, Thorsteinsdottir U, Masson G, Kong A, Halldorsson BV, Helgason A, Gudbjartsson DF, Stefansson K. Jónsson H, et al. Nature. 2017 Sep 28;549(7673):519-522. doi: 10.1038/nature24018. Epub 2017 Sep 20. Nature. 2017. PMID: 28959963

10

Enzymatic testing sensitivity, variability and practical diagnostic algorithm for pyruvate dehydrogenase complex (PDC) deficiency.

Shin HK, Grahame G, McCandless SE, Kerr DS, Bedoyan JK. Shin HK, et al. Mol Genet Metab. 2017 Nov;122(3):61-66. doi: 10.1016/j.ymgme.2017.09.001. Epub 2017 Sep 8. Mol Genet Metab. 2017. PMID: 28918066 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Results by year

Text availability

Article attribute

Article type

Publication date

39 results

Results by year