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• An Introduction to Pharmacotherapy for Inborn Errors of Metabolism.

  Harthan AA. Harthan AA. J Pediatr Pharmacol Ther. 2018 Nov-Dec;23(6):432-446. doi: 10.5863/1551-6776-23.6.432. J Pediatr Pharmacol Ther. 2018. PMID: 30697128 Free PMC article. Review.
• Hypothesis-independent pathway analysis implicates GABA and acetyl-CoA metabolism in primary open-angle glaucoma and normal-pressure glaucoma.

  Bailey JN, Yaspan BL, Pasquale LR, Hauser MA, Kang JH, Loomis SJ, Brilliant M, Budenz DL, Christen WG, Fingert J, Gaasterland D, Gaasterland T, Kraft P, Lee RK, Lichter PR, Liu Y, McCarty CA, Moroi SE, Richards JE, Realini T, Schuman JS, Scott WK, Singh K, Sit AJ, Vollrath D, Wollstein G, Zack DJ, Zhang K, Pericak-Vance MA, Allingham RR, Weinreb RN, Haines JL, Wiggs JL. Bailey JN, et al. Hum Genet. 2014 Oct;133(10):1319-30. doi: 10.1007/s00439-014-1468-7. Epub 2014 Jul 19. Hum Genet. 2014. PMID: 25037249 Free PMC article.
• Optic neuropathy in a patient with pyruvate dehydrogenase deficiency.

  Small JE, Gonzalez GE, Nagao KE, Walton DS, Caruso PA. Small JE, et al. Pediatr Radiol. 2009 Oct;39(10):1114-7. doi: 10.1007/s00247-009-1344-0. Epub 2009 Jul 9. Pediatr Radiol. 2009. PMID: 19588132
• Embryology, Malformations, and Rare Diseases of the Cochlea.

  Warnecke A, Giesemann A. Warnecke A, et al. Laryngorhinootologie. 2021 Apr;100(S 01):S1-S43. doi: 10.1055/a-1349-3824. Epub 2021 Apr 30. Laryngorhinootologie. 2021. PMID: 34352899 Free PMC article.
• 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.