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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2002 3
2003 6
2004 1
2005 2
2006 2
2007 4
2008 3
2009 1
2010 3
2011 7
2012 4
2013 5
2014 4
2015 6
2016 2
2018 3
2019 2
2020 5
2021 3
2022 1
2023 1
2024 0

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61 results

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Page 1
Branched-chain α-ketoacid dehydrogenase deficiency (maple syrup urine disease): Treatment, biomarkers, and outcomes.
Strauss KA, Carson VJ, Soltys K, Young ME, Bowser LE, Puffenberger EG, Brigatti KW, Williams KB, Robinson DL, Hendrickson C, Beiler K, Taylor CM, Haas-Givler B, Chopko S, Hailey J, Muelly ER, Shellmer DA, Radcliff Z, Rodrigues A, Loeven K, Heaps AD, Mazariegos GV, Morton DH. Strauss KA, et al. Among authors: morton dh. Mol Genet Metab. 2020 Mar;129(3):193-206. doi: 10.1016/j.ymgme.2020.01.006. Epub 2020 Jan 16. Mol Genet Metab. 2020. PMID: 31980395 Free article.
Liver transplantation for pediatric metabolic disease.
Mazariegos G, Shneider B, Burton B, Fox IJ, Hadzic N, Kishnani P, Morton DH, McIntire S, Sokol RJ, Summar M, White D, Chavanon V, Vockley J. Mazariegos G, et al. Among authors: morton dh. Mol Genet Metab. 2014 Apr;111(4):418-27. doi: 10.1016/j.ymgme.2014.01.006. Epub 2014 Jan 17. Mol Genet Metab. 2014. PMID: 24495602 Review.
Pyruvate kinase deficiency in children.
Chonat S, Eber SW, Holzhauer S, Kollmar N, Morton DH, Glader B, Neufeld EJ, Yaish HM, Rothman JA, Sharma M, Ravindranath Y, Wang H, Breakey VR, Sheth S, Bradeen HA, Al-Sayegh H, London WB, Grace RF. Chonat S, et al. Among authors: morton dh. Pediatr Blood Cancer. 2021 Sep;68(9):e29148. doi: 10.1002/pbc.29148. Epub 2021 Jun 14. Pediatr Blood Cancer. 2021. PMID: 34125488
Erythrocyte pyruvate kinase deficiency: 2015 status report.
Grace RF, Zanella A, Neufeld EJ, Morton DH, Eber S, Yaish H, Glader B. Grace RF, et al. Among authors: morton dh. Am J Hematol. 2015 Sep;90(9):825-30. doi: 10.1002/ajh.24088. Epub 2015 Aug 14. Am J Hematol. 2015. PMID: 26087744 Free PMC article. Review.
Characterization of the severe phenotype of pyruvate kinase deficiency.
Al-Samkari H, van Beers EJ, Morton DH, Barcellini W, Eber SW, Glader B, Yaish HM, Chonat S, Kuo KHM, Kollmar N, Despotovic JM, Pospíšilová D, Knoll CM, Kwiatkowski JL, Pastore YD, Thompson AA, Wlodarski MW, Ravindranath Y, Rothman JA, Wang H, Holzhauer S, Breakey VR, Verhovsek MM, Kunz J, Sheth S, Sharma M, Rose MJ, Bradeen HA, McNaull MN, Addonizio K, Al-Sayegh H, London WB, Grace RF. Al-Samkari H, et al. Among authors: morton dh. Am J Hematol. 2020 Oct;95(10):E281-E285. doi: 10.1002/ajh.25926. Epub 2020 Aug 6. Am J Hematol. 2020. PMID: 32619047 Free article. No abstract available.
Genotype-phenotype correlation and molecular heterogeneity in pyruvate kinase deficiency.
Bianchi P, Fermo E, Lezon-Geyda K, van Beers EJ, Morton HD, Barcellini W, Glader B, Chonat S, Ravindranath Y, Newburger PE, Kollmar N, Despotovic JM, Verhovsek M, Sharma M, Kwiatkowski JL, Kuo KHM, Wlodarski MW, Yaish HM, Holzhauer S, Wang H, Kunz J, Addonizio K, Al-Sayegh H, London WB, Andres O, van Wijk R, Gallagher PG, Grace RFF. Bianchi P, et al. Among authors: morton hd. Am J Hematol. 2020 May;95(5):472-482. doi: 10.1002/ajh.25753. Epub 2020 Mar 6. Am J Hematol. 2020. PMID: 32043619 Free PMC article.
Red Blood Cell Metabolism in Pyruvate Kinase Deficient Patients.
Roy MK, Cendali F, Ooyama G, Gamboni F, Morton H, D'Alessandro A. Roy MK, et al. Among authors: morton h. Front Physiol. 2021 Oct 21;12:735543. doi: 10.3389/fphys.2021.735543. eCollection 2021. Front Physiol. 2021. PMID: 34744776 Free PMC article.
Safety and Efficacy of Mitapivat in Pyruvate Kinase Deficiency.
Grace RF, Rose C, Layton DM, Galactéros F, Barcellini W, Morton DH, van Beers EJ, Yaish H, Ravindranath Y, Kuo KHM, Sheth S, Kwiatkowski JL, Barbier AJ, Bodie S, Silver B, Hua L, Kung C, Hawkins P, Jouvin MH, Bowden C, Glader B. Grace RF, et al. Among authors: morton dh. N Engl J Med. 2019 Sep 5;381(10):933-944. doi: 10.1056/NEJMoa1902678. N Engl J Med. 2019. PMID: 31483964 Clinical Trial.
One community's effort to control genetic disease.
Strauss KA, Puffenberger EG, Morton DH. Strauss KA, et al. Among authors: morton dh. Am J Public Health. 2012 Jul;102(7):1300-6. doi: 10.2105/AJPH.2011.300569. Epub 2012 May 17. Am J Public Health. 2012. PMID: 22594747 Free PMC article.
61 results