Lichter-Konecki U - Search Results

1

Two-tier approach to the newborn screening of methylenetetrahydrofolate reductase deficiency and other remethylation disorders with tandem mass spectrometry.

Tortorelli S, Turgeon CT, Lim JS, Baumgart S, Day-Salvatore DL, Abdenur J, Bernstein JA, Lorey F, Lichter-Konecki U, Oglesbee D, Raymond K, Matern D, Schimmenti L, Rinaldo P, Gavrilov DK. Tortorelli S, et al. J Pediatr. 2010 Aug;157(2):271-5. doi: 10.1016/j.jpeds.2010.02.027. Epub 2010 Apr 14. J Pediatr. 2010. PMID: 20394947

2

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.

3

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.

4

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.

5

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

6

Facilitation of hyperphenylalaninaemia phenotype assessment by genotype analysis.

Konecki DS, Schweitzer-Krantz S, Byrd D, Trefz FK, Lichter-Konecki U. Konecki DS, et al. Eur J Pediatr. 1993 Dec;152(12):1048-9. doi: 10.1007/BF01957239. Eur J Pediatr. 1993. PMID: 8131811 No abstract available.

7

3-Methylglutaconic aciduria in a patient with Pearson syndrome.

Lichter-Konecki U, Trefz FK, Rötig A, Munnich A, Pfeil A, Bremer HJ. Lichter-Konecki U, et al. Eur J Pediatr. 1993 Apr;152(4):378. doi: 10.1007/BF01956761. Eur J Pediatr. 1993. PMID: 8482296 No abstract available.

8

Clinical outcomes of neonatal onset proximal versus distal urea cycle disorders do not differ.

Ah Mew N, Krivitzky L, McCarter R, Batshaw M, Tuchman M; Urea Cycle Disorders Consortium of the Rare Diseases Clinical Research Network. Ah Mew N, et al. J Pediatr. 2013 Feb;162(2):324-9.e1. doi: 10.1016/j.jpeds.2012.06.065. Epub 2012 Aug 15. J Pediatr. 2013. PMID: 22901741 Free PMC article.

9

Outcome of infants diagnosed with 3-methyl-crotonyl-CoA-carboxylase deficiency by newborn screening.

Arnold GL, Salazar D, Neidich JA, Suwannarat P, Graham BH, Lichter-Konecki U, Bosch AM, Cusmano-Ozog K, Enns G, Wright EL, Lanpher BC, Owen NN, Lipson MH, Cerone R, Levy P, Wong LJ, Dezsofi A. Arnold GL, et al. Mol Genet Metab. 2012 Aug;106(4):439-41. doi: 10.1016/j.ymgme.2012.04.006. Epub 2012 Apr 20. Mol Genet Metab. 2012. PMID: 22658692

10

Augmenting ureagenesis in patients with partial carbamyl phosphate synthetase 1 deficiency with N-carbamyl-L-glutamate.

Ah Mew N, McCarter R, Daikhin Y, Lichter-Konecki U, Nissim I, Yudkoff M, Tuchman M. Ah Mew N, et al. J Pediatr. 2014 Aug;165(2):401-403.e3. doi: 10.1016/j.jpeds.2014.04.012. Epub 2014 May 29. J Pediatr. 2014. PMID: 24880889 Free PMC article. Clinical Trial.

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