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Thiamine pyrophosphokinase deficiency causes a Leigh Disease like phenotype in a sibling pair: identification through whole exome sequencing and management strategies.
Fraser JL, Vanderver A, Yang S, Chang T, Cramp L, Vezina G, Lichter-Konecki U, Cusmano-Ozog KP, Smpokou P, Chapman KA, Zand DJ. Fraser JL, et al. Mol Genet Metab Rep. 2014 Feb 11;1:66-70. doi: 10.1016/j.ymgmr.2013.12.007. eCollection 2014. Mol Genet Metab Rep. 2014. PMID: 27896076 Free PMC article.
Complex management of a patient with a contiguous Xp11.4 gene deletion involving ornithine transcarbamylase: a role for detailed molecular analysis in complex presentations of classical diseases.
Deardorff MA, Gaddipati H, Kaplan P, Sanchez-Lara PA, Sondheimer N, Spinner NB, Hakonarson H, Ficicioglu C, Ganesh J, Markello T, Loechelt B, Zand DJ, Yudkoff M, Lichter-Konecki U. Deardorff MA, et al. Mol Genet Metab. 2008 Aug;94(4):498-502. doi: 10.1016/j.ymgme.2008.04.011. Epub 2008 Jun 3. Mol Genet Metab. 2008. PMID: 18524659 Free PMC article.
Multisite Retrospective Review of Outcomes in Renal Replacement Therapy for Neonates with Inborn Errors of Metabolism.
Ames EG, Powell C, Engen RM, Weaver DJ Jr, Mansuri A, Rheault MN, Sanderson K, Lichter-Konecki U, Daga A, Burrage LC, Ahmad A, Wenderfer SE, Luckritz KE. Ames EG, et al. Among authors: lichter konecki u. J Pediatr. 2022 Jul;246:116-122.e1. doi: 10.1016/j.jpeds.2022.03.043. Epub 2022 Mar 28. J Pediatr. 2022. PMID: 35358588 Free PMC article.
Genomics in newborn screening.
Landau YE, Lichter-Konecki U, Levy HL. Landau YE, et al. J Pediatr. 2014 Jan;164(1):14-9. doi: 10.1016/j.jpeds.2013.07.028. Epub 2013 Aug 27. J Pediatr. 2014. PMID: 23992678 Review. No abstract available.
106 results