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Page 1
Succinyl-CoA ligase deficiency: a mitochondrial hepatoencephalomyopathy.
Van Hove JL, Saenz MS, Thomas JA, Gallagher RC, Lovell MA, Fenton LZ, Shanske S, Myers SM, Wanders RJ, Ruiter J, Turkenburg M, Waterham HR. Van Hove JL, et al. Among authors: lovell ma. Pediatr Res. 2010 Aug;68(2):159-64. doi: 10.1203/PDR.0b013e3181e5c3a4. Pediatr Res. 2010. PMID: 20453710 Free PMC article.
Mutations in the accessory subunit NDUFB10 result in isolated complex I deficiency and illustrate the critical role of intermembrane space import for complex I holoenzyme assembly.
Friederich MW, Erdogan AJ, Coughlin CR 2nd, Elos MT, Jiang H, O'Rourke CP, Lovell MA, Wartchow E, Gowan K, Chatfield KC, Chick WS, Spector EB, Van Hove JLK, Riemer J. Friederich MW, et al. Among authors: lovell ma. Hum Mol Genet. 2017 Feb 15;26(4):702-716. doi: 10.1093/hmg/ddw431. Hum Mol Genet. 2017. PMID: 28040730 Free PMC article.
Mutations in PMPCB Encoding the Catalytic Subunit of the Mitochondrial Presequence Protease Cause Neurodegeneration in Early Childhood.
Vögtle FN, Brändl B, Larson A, Pendziwiat M, Friederich MW, White SM, Basinger A, Kücükköse C, Muhle H, Jähn JA, Keminer O, Helbig KL, Delto CF, Myketin L, Mossmann D, Burger N, Miyake N, Burnett A, van Baalen A, Lovell MA, Matsumoto N, Walsh M, Yu HC, Shinde DN, Stephani U, Van Hove JLK, Müller FJ, Helbig I. Vögtle FN, et al. Among authors: lovell ma. Am J Hum Genet. 2018 Apr 5;102(4):557-573. doi: 10.1016/j.ajhg.2018.02.014. Epub 2018 Mar 22. Am J Hum Genet. 2018. PMID: 29576218 Free PMC article.
Health related quality of life in patients with biliary atresia surviving with their native liver.
Sundaram SS, Alonso EM, Haber B, Magee JC, Fredericks E, Kamath B, Kerkar N, Rosenthal P, Shepherd R, Limbers C, Varni JW, Robuck P, Sokol RJ; Childhood Liver Disease Research and Education Network (ChiLDREN). Sundaram SS, et al. J Pediatr. 2013 Oct;163(4):1052-7.e2. doi: 10.1016/j.jpeds.2013.04.037. Epub 2013 Jun 6. J Pediatr. 2013. PMID: 23746866 Free PMC article.
Medical status of 219 children with biliary atresia surviving long-term with their native livers: results from a North American multicenter consortium.
Ng VL, Haber BH, Magee JC, Miethke A, Murray KF, Michail S, Karpen SJ, Kerkar N, Molleston JP, Romero R, Rosenthal P, Schwarz KB, Shneider BL, Turmelle YP, Alonso EM, Sherker AH, Sokol RJ; Childhood Liver Disease Research and Education Network (CHiLDREN). Ng VL, et al. J Pediatr. 2014 Sep;165(3):539-546.e2. doi: 10.1016/j.jpeds.2014.05.038. Epub 2014 Jul 9. J Pediatr. 2014. PMID: 25015575 Free PMC article.
Longitudinal Outcomes in Young Patients with Alpha-1-Antitrypsin Deficiency with Native Liver Reveal that Neonatal Cholestasis is a Poor Predictor of Future Portal Hypertension.
Teckman J, Rosenthal P, Hawthorne K, Spino C, Bass LM, Murray KF, Kerkar N, Magee JC, Karpen S, Heubi JE, Molleston JP, Squires RH, Kamath BM, Guthery SL, Loomes KM, Sherker AH, Sokol RJ; ChiLDReN (Childhood Liver Disease Research Network). Teckman J, et al. J Pediatr. 2020 Dec;227:81-86.e4. doi: 10.1016/j.jpeds.2020.07.031. Epub 2020 Jul 11. J Pediatr. 2020. PMID: 32663593 Free PMC article.
Risk of variceal hemorrhage and pretransplant mortality in children with biliary atresia.
Bass LM, Ye W, Hawthorne K, Leung DH, Murray KF, Molleston JP, Romero R, Karpen S, Rosenthal P, Loomes KM, Wang KS, Squires RH, Miethke A, Ng VL, Horslen S, Kyle Jensen M, Sokol RJ, Magee JC, Shneider BL; ChiLDReN. Bass LM, et al. Hepatology. 2022 Sep;76(3):712-726. doi: 10.1002/hep.32451. Epub 2022 Apr 18. Hepatology. 2022. PMID: 35271743 Free PMC article.
Mechanisms of disease: Inborn errors of bile acid synthesis.
Sundaram SS, Bove KE, Lovell MA, Sokol RJ. Sundaram SS, et al. Among authors: lovell ma. Nat Clin Pract Gastroenterol Hepatol. 2008 Aug;5(8):456-68. doi: 10.1038/ncpgasthep1179. Epub 2008 Jun 24. Nat Clin Pract Gastroenterol Hepatol. 2008. PMID: 18577977 Free PMC article. Review.
235 results