Lukacs Z - Search Results

1

Newborn screening for Fabry disease by measuring GLA activity using tandem mass spectrometry.

Dajnoki A, Fekete G, Keutzer J, Orsini JJ, De Jesus VR, Chien YH, Hwu WL, Lukacs Z, Mühl A, Zhang XK, Bodamer O. Dajnoki A, et al. Among authors: lukacs z. Clin Chim Acta. 2010 Oct 9;411(19-20):1428-31. doi: 10.1016/j.cca.2010.03.009. Epub 2010 Mar 22. Clin Chim Acta. 2010. PMID: 20338160

2

Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals.

Wang RY, Bodamer OA, Watson MS, Wilcox WR; ACMG Work Group on Diagnostic Confirmation of Lysosomal Storage Diseases. Wang RY, et al. Genet Med. 2011 May;13(5):457-84. doi: 10.1097/GIM.0b013e318211a7e1. Genet Med. 2011. PMID: 21502868 Free article.

3

The use of dried blood spot samples in the diagnosis of lysosomal storage disorders--current status and perspectives.

Reuser AJ, Verheijen FW, Bali D, van Diggelen OP, Germain DP, Hwu WL, Lukacs Z, Mühl A, Olivova P, Piraud M, Wuyts B, Zhang K, Keutzer J. Reuser AJ, et al. Among authors: lukacs z. Mol Genet Metab. 2011 Sep-Oct;104(1-2):144-8. doi: 10.1016/j.ymgme.2011.07.014. Epub 2011 Jul 23. Mol Genet Metab. 2011. PMID: 21831684 Review.

4

Investigating the suitability of high-resolution mass spectrometry for newborn screening: identification of hemoglobinopathies and β-thalassemias in dried blood spots.

Wiesinger T, Mechtler T, Schwarz M, Xie X, Grosse R, Nieves Cobos P, Kasper D, Lukacs Z. Wiesinger T, et al. Among authors: lukacs z. Clin Chem Lab Med. 2020 Apr 28;58(5):810-816. doi: 10.1515/cclm-2019-0832. Clin Chem Lab Med. 2020. PMID: 32031968

5

Feature construction can improve diagnostic criteria for high-dimensional metabolic data in newborn screening for medium-chain acyl-CoA dehydrogenase deficiency.

Ho S, Lukacs Z, Hoffmann GF, Lindner M, Wetter T. Ho S, et al. Among authors: lukacs z. Clin Chem. 2007 Jul;53(7):1330-7. doi: 10.1373/clinchem.2006.081802. Epub 2007 May 18. Clin Chem. 2007. PMID: 17513288

6

Tandem mass spectrometry screening for very long-chain acyl-CoA dehydrogenase deficiency: the value of second-tier enzyme testing.

Spiekerkoetter U, Haussmann U, Mueller M, ter Veld F, Stehn M, Santer R, Lukacs Z. Spiekerkoetter U, et al. Among authors: lukacs z. J Pediatr. 2010 Oct;157(4):668-73. doi: 10.1016/j.jpeds.2010.04.063. Epub 2010 Jun 12. J Pediatr. 2010. PMID: 20547398

7

Methods for a prompt and reliable laboratory diagnosis of Pompe disease: report from an international consensus meeting.

Pompe Disease Diagnostic Working Group; Winchester B, Bali D, Bodamer OA, Caillaud C, Christensen E, Cooper A, Cupler E, Deschauer M, Fumić K, Jackson M, Kishnani P, Lacerda L, Ledvinová J, Lugowska A, Lukacs Z, Maire I, Mandel H, Mengel E, Müller-Felber W, Piraud M, Reuser A, Rupar T, Sinigerska I, Szlago M, Verheijen F, van Diggelen OP, Wuyts B, Zakharova E, Keutzer J. Pompe Disease Diagnostic Working Group, et al. Among authors: lukacs z. Mol Genet Metab. 2008 Mar;93(3):275-81. doi: 10.1016/j.ymgme.2007.09.006. Epub 2007 Dec 19. Mol Genet Metab. 2008. PMID: 18078773

8

Diagnosing mucopolysaccharidosis IVA.

Wood TC, Harvey K, Beck M, Burin MG, Chien YH, Church HJ, D'Almeida V, van Diggelen OP, Fietz M, Giugliani R, Harmatz P, Hawley SM, Hwu WL, Ketteridge D, Lukacs Z, Miller N, Pasquali M, Schenone A, Thompson JN, Tylee K, Yu C, Hendriksz CJ. Wood TC, et al. Among authors: lukacs z. J Inherit Metab Dis. 2013 Mar;36(2):293-307. doi: 10.1007/s10545-013-9587-1. Epub 2013 Feb 1. J Inherit Metab Dis. 2013. PMID: 23371450 Free PMC article.

9

Recommendations for clinical monitoring of patients with acid sphingomyelinase deficiency (ASMD).

Wasserstein M, Dionisi-Vici C, Giugliani R, Hwu WL, Lidove O, Lukacs Z, Mengel E, Mistry PK, Schuchman EH, McGovern M. Wasserstein M, et al. Among authors: lukacs z. Mol Genet Metab. 2019 Feb;126(2):98-105. doi: 10.1016/j.ymgme.2018.11.014. Epub 2018 Nov 29. Mol Genet Metab. 2019. PMID: 30514648 Free PMC article. Review.

10

Diagnostic strategy for females suspected of Fabry disease.

Balendran S, Oliva P, Sansen S, Mechtler TP, Streubel B, Cobos PN, Lukacs Z, Kasper DC. Balendran S, et al. Among authors: lukacs z. Clin Genet. 2020 Apr;97(4):655-660. doi: 10.1111/cge.13694. Epub 2020 Jan 7. Clin Genet. 2020. PMID: 31860127

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