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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. Among authors: lehman a. 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.
Clinical, biochemical and molecular characterization of 12 patients with pyruvate carboxylase deficiency treated with triheptanoin.
Lasio MLD, Leshinski AC, Ducich NH, Flore LA, Lehman A, Shur N, Jayakar PB, Hainline BE, Basinger AA, Wilson WG, Diaz GA, Erbe RW, Koeberl DD, Vockley J, Bedoyan JK. Lasio MLD, et al. Among authors: lehman a. Mol Genet Metab. 2023 Jun;139(2):107605. doi: 10.1016/j.ymgme.2023.107605. Epub 2023 May 9. Mol Genet Metab. 2023. PMID: 37207470 Free PMC article.
Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes.
Maia N, Ibarluzea N, Misra-Isrie M, Koboldt DC, Marques I, Soares G, Santos R, Marcelis CLM, Keski-Filppula R, Guitart M, Gabau Vila E, Lehman A, Hickey S, Mori M, Terhal P, Valenzuela I, Lasa-Aranzasti A, Cueto-González AM, Chhouk BH, Yeh RC, Neil JE, Abu-Libde B, Kleefstra T, Elting MW, Császár A, Kárteszi J, Bessenyei B, van Bokhoven H, Jorge P, van Hagen JM, de Brouwer APM. Maia N, et al. Among authors: lehman a. Am J Med Genet A. 2023 Jan;191(1):135-143. doi: 10.1002/ajmg.a.63004. Epub 2022 Oct 22. Am J Med Genet A. 2023. PMID: 36271811 Free PMC article.
Systematic Review: Efficacy of Medical Therapy on Outcomes Important to Adult Patients with X-Linked Hypophosphatemia.
Ali DS, Mirza RD, Alsarraf F, Hussein S, Abu Alrob H, Appelman-Dijkstra NM, Beck-Nielsen SS, Biosse-Duplan M, Brandi ML, Carpenter TO, Chaussain C, Cohen-Solal M, Crowley RK, Dandurand K, Florenzano P, Fukumoto S, Gagnon C, Goodyer P, Grasemann C, Imel EA, Jan de Beur SM, Lehman A, Lewiecki EM, Morgante E, Ward LM, Khan AA, Guyatt G. Ali DS, et al. Among authors: lehman a. J Clin Endocrinol Metab. 2024 Dec 23:dgae890. doi: 10.1210/clinem/dgae890. Online ahead of print. J Clin Endocrinol Metab. 2024. PMID: 39715351
Ethical Considerations Regarding Psychedelics for Clinical Pain Research.
Robinson CL, Slitzky M, Schatman ME, Yong RJ, Lehman AD, Kaynar AM, Shivanekar SP, Emerick T. Robinson CL, et al. Among authors: lehman ad. J Pain Res. 2024 Dec 17;17:4357-4364. doi: 10.2147/JPR.S491470. eCollection 2024. J Pain Res. 2024. PMID: 39712463 Free PMC article. Review.
Do Patients With Candidemia Need an Ophthalmologic Examination?
Lehman A, Tessier KM, Sattarova V, Montezuma SR, Kline S, Erayil SE. Lehman A, et al. Open Forum Infect Dis. 2024 Nov 7;11(12):ofae663. doi: 10.1093/ofid/ofae663. eCollection 2024 Dec. Open Forum Infect Dis. 2024. PMID: 39691288 Free PMC article.
602 results