Kerr DS - Search Results

1

Mutations in the MPV17 gene are responsible for rapidly progressive liver failure in infancy.

Wong LJ, Brunetti-Pierri N, Zhang Q, Yazigi N, Bove KE, Dahms BB, Puchowicz MA, Gonzalez-Gomez I, Schmitt ES, Truong CK, Hoppel CL, Chou PC, Wang J, Baldwin EE, Adams D, Leslie N, Boles RG, Kerr DS, Craigen WJ. Wong LJ, et al. Among authors: kerr ds. Hepatology. 2007 Oct;46(4):1218-27. doi: 10.1002/hep.21799. Hepatology. 2007. PMID: 17694548

2

Succinyl-CoA synthetase (SUCLA2) deficiency in two siblings with impaired activity of other mitochondrial oxidative enzymes in skeletal muscle without mitochondrial DNA depletion.

Huang X, Bedoyan JK, Demirbas D, Harris DJ, Miron A, Edelheit S, Grahame G, DeBrosse SD, Wong LJ, Hoppel CL, Kerr DS, Anselm I, Berry GT. Huang X, et al. Among authors: kerr ds. Mol Genet Metab. 2017 Mar;120(3):213-222. doi: 10.1016/j.ymgme.2016.11.005. Epub 2016 Nov 12. Mol Genet Metab. 2017. PMID: 27913098 Free PMC article.

3

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

Coughlin CR 2nd, Krantz ID, Schmitt ES, Zhang S, Wong LJ, Kerr DS, Ganesh J. Coughlin CR 2nd, et al. Among authors: kerr ds. Mol Genet Metab. 2010 Jul;100(3):296-9. doi: 10.1016/j.ymgme.2010.04.004. Epub 2010 Apr 14. Mol Genet Metab. 2010. PMID: 20462777

4

Oxidative phosphorylation analysis: assessing the integrated functional activity of human skeletal muscle mitochondria--case studies.

Puchowicz MA, Varnes ME, Cohen BH, Friedman NR, Kerr DS, Hoppel CL. Puchowicz MA, et al. Among authors: kerr ds. Mitochondrion. 2004 Sep;4(5-6):377-85. doi: 10.1016/j.mito.2004.07.004. Mitochondrion. 2004. PMID: 16120399

5

A novel mutation in the mitochondrial tRNA(Ser(AGY)) gene associated with mitochondrial myopathy, encephalopathy, and complex I deficiency.

Wong LJ, Yim D, Bai RK, Kwon H, Vacek MM, Zane J, Hoppel CL, Kerr DS. Wong LJ, et al. Among authors: kerr ds. J Med Genet. 2006 Sep;43(9):e46. doi: 10.1136/jmg.2005.040626. J Med Genet. 2006. PMID: 16950817 Free PMC article.

6

Deficiency of the reduced nicotinamide adenine dinucleotide dehydrogenase component of complex I of mitochondrial electron transport. Fatal infantile lactic acidosis and hypermetabolism with skeletal-cardiac myopathy and encephalopathy.

Hoppel CL, Kerr DS, Dahms B, Roessmann U. Hoppel CL, et al. Among authors: kerr ds. J Clin Invest. 1987 Jul;80(1):71-7. doi: 10.1172/JCI113066. J Clin Invest. 1987. PMID: 3110216 Free PMC article.

7

Fumarase deficiency: a new cause of mitochondrial encephalomyopathy.

Zinn AB, Kerr DS, Hoppel CL. Zinn AB, et al. Among authors: kerr ds. N Engl J Med. 1986 Aug 21;315(8):469-75. doi: 10.1056/NEJM198608213150801. N Engl J Med. 1986. PMID: 3736629

8

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. Among authors: kerr ds. 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.

9

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

Bedoyan JK, Yang SP, Ferdinandusse S, Jack RM, Miron A, Grahame G, DeBrosse SD, Hoppel CL, Kerr DS, Wanders RJA. Bedoyan JK, et al. Among authors: kerr ds. Mol Genet Metab. 2017 Apr;120(4):342-349. doi: 10.1016/j.ymgme.2017.02.002. Epub 2017 Feb 2. Mol Genet Metab. 2017. PMID: 28202214 Free PMC article. Review.

10

Design and implementation of the first randomized controlled trial of coenzyme CoQ₁₀ in children with primary mitochondrial diseases.

Stacpoole PW, deGrauw TJ, Feigenbaum AS, Hoppel C, Kerr DS, McCandless SE, Miles MV, Robinson BH, Tang PH. Stacpoole PW, et al. Among authors: kerr ds. Mitochondrion. 2012 Nov;12(6):623-9. doi: 10.1016/j.mito.2012.09.005. Epub 2012 Sep 25. Mitochondrion. 2012. PMID: 23022402 Free PMC article. Clinical Trial.

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 Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

163 results

Search Page

Filters