Hoppel CL - Search Results

1

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: hoppel cl. J Med Genet. 2006 Sep;43(9):e46. doi: 10.1136/jmg.2005.040626. J Med Genet. 2006. PMID: 16950817 Free PMC article.

2

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. J Clin Invest. 1987 Jul;80(1):71-7. doi: 10.1172/JCI113066. J Clin Invest. 1987. PMID: 3110216 Free PMC article.

3

Fumarase deficiency: a new cause of mitochondrial encephalomyopathy.

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

4

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: hoppel cl. 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.

5

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: hoppel cl. 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.

6

Systemic deficiency of the first component of the pyruvate dehydrogenase complex.

Kerr DS, Ho L, Berlin CM, Lanoue KF, Towfighi J, Hoppel CL, Lusk MM, Gondek CM, Patel MS. Kerr DS, et al. Among authors: hoppel cl. Pediatr Res. 1987 Sep;22(3):312-8. doi: 10.1203/00006450-198709000-00015. Pediatr Res. 1987. PMID: 3116495

7

Autosomal dominant acute necrotizing encephalopathy.

Neilson DE, Eiben RM, Waniewski S, Hoppel CL, Varnes ME, Bangert BA, Wiznitzer M, Warman ML, Kerr DS. Neilson DE, et al. Among authors: hoppel cl. Neurology. 2003 Jul 22;61(2):226-30. doi: 10.1212/01.wnl.0000073544.28775.1a. Neurology. 2003. PMID: 12874403

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: hoppel cl. 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

Urinary 3-hydroxydicarboxylic acids in pathophysiology of metabolic disorders with dicarboxylic aciduria.

Tserng KY, Jin SJ, Kerr DS, Hoppel CL. Tserng KY, et al. Among authors: hoppel cl. Metabolism. 1991 Jul;40(7):676-82. doi: 10.1016/0026-0495(91)90083-9. Metabolism. 1991. PMID: 1870421

10

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: hoppel cl. Hepatology. 2007 Oct;46(4):1218-27. doi: 10.1002/hep.21799. Hepatology. 2007. PMID: 17694548

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