Lichter-Konecki U - Search Results

1

Diagnostic exome sequencing in children: A survey of parental understanding, experience and psychological impact.

Wynn J, Ottman R, Duong J, Wilson AL, Ahimaz P, Martinez J, Rabin R, Rosen E, Webster R, Au C, Cho MT, Egan C, Guzman E, Primiano M, Shaw JE, Sisson R, Klitzman RL, Appelbaum PS, Lichter-Konecki U, Anyane-Yeboa K, Iglesias A, Chung WK. Wynn J, et al. Clin Genet. 2018 May;93(5):1039-1048. doi: 10.1111/cge.13200. Epub 2018 Mar 13. Clin Genet. 2018. PMID: 29266212 Free PMC article.

2

A mutation abolishing the ZMPSTE24 cleavage site in prelamin A causes a progeroid disorder.

Wang Y, Lichter-Konecki U, Anyane-Yeboa K, Shaw JE, Lu JT, Östlund C, Shin JY, Clark LN, Gundersen GG, Nagy PL, Worman HJ. Wang Y, et al. J Cell Sci. 2016 May 15;129(10):1975-80. doi: 10.1242/jcs.187302. Epub 2016 Mar 31. J Cell Sci. 2016. PMID: 27034136 Free PMC article.

3

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.

4

Feasibility of adjunct therapeutic hypothermia treatment for hyperammonemia and encephalopathy due to urea cycle disorders and organic acidemias.

Lichter-Konecki U, Nadkarni V, Moudgil A, Cook N, Poeschl J, Meyer MT, Dimmock D, Baumgart S. Lichter-Konecki U, et al. Mol Genet Metab. 2013 Aug;109(4):354-9. doi: 10.1016/j.ymgme.2013.05.014. Epub 2013 May 29. Mol Genet Metab. 2013. PMID: 23791307

5

Menkes disease in affected females: the clinical disease spectrum.

Smpokou P, Samanta M, Berry GT, Hecht L, Engle EC, Lichter-Konecki U. Smpokou P, et al. Am J Med Genet A. 2015 Feb;167A(2):417-20. doi: 10.1002/ajmg.a.36853. Epub 2014 Nov 26. Am J Med Genet A. 2015. PMID: 25428120 Free PMC article. Review.

6

Diagnostic guidelines for newborns who screen positive in newborn screening.

Kronn D, Mofidi S, Braverman N, Harris K; Diagnostics Guidelines Work Group. Kronn D, et al. Genet Med. 2010 Dec;12(12 Suppl):S251-5. doi: 10.1097/GIM.0b013e3181fe5d8b. Genet Med. 2010. PMID: 21150371 Free article.

7

Severe neonatal holocarboxylase synthetase deficiency in west african siblings.

De Castro M, Zand DJ, Lichter-Konecki U, Kirmse B. De Castro M, et al. JIMD Rep. 2015;20:1-4. doi: 10.1007/8904_2014_367. Epub 2015 Feb 18. JIMD Rep. 2015. PMID: 25690727 Free PMC article.

8

Effectiveness of a clinical pathway for the emergency treatment of patients with inborn errors of metabolism.

Zand DJ, Brown KM, Lichter-Konecki U, Campbell JK, Salehi V, Chamberlain JM. Zand DJ, et al. Pediatrics. 2008 Dec;122(6):1191-5. doi: 10.1542/peds.2008-0205. Pediatrics. 2008. PMID: 19047233

9

Noncompaction of the ventricular myocardium and hydrops fetalis in cobalamin C disease.

Tanpaiboon P, Sloan JL, Callahan PF, McAreavey D, Hart PS, Lichter-Konecki U, Zand D, Venditti CP. Tanpaiboon P, et al. JIMD Rep. 2013;10:33-8. doi: 10.1007/8904_2012_197. Epub 2012 Dec 29. JIMD Rep. 2013. PMID: 23430797 Free PMC article.

10

MRI features of 4 female patients with pyruvate dehydrogenase E1 alpha deficiency.

Ah Mew N, Loewenstein JB, Kadom N, Lichter-Konecki U, Gropman AL, Martin JM, Vanderver A. Ah Mew N, et al. Pediatr Neurol. 2011 Jul;45(1):57-9. doi: 10.1016/j.pediatrneurol.2011.02.003. Pediatr Neurol. 2011. PMID: 21723463 Free PMC article.

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