Lukacs Z - Search Results

1

Targeted screening for the detection of Pompe disease in patients with unclassified limb-girdle muscular dystrophy or asymptomatic hyperCKemia using dried blood: A Spanish cohort.

Gutiérrez-Rivas E, Bautista J, Vílchez JJ, Muelas N, Díaz-Manera J, Illa I, Martínez-Arroyo A, Olivé M, Sanz I, Arpa J, Fernández-Torrón R, López de Munáin A, Jiménez L, Solera J, Lukacs Z. Gutiérrez-Rivas E, et al. Among authors: lukacs z. Neuromuscul Disord. 2015 Jul;25(7):548-53. doi: 10.1016/j.nmd.2015.04.008. Epub 2015 Apr 23. Neuromuscul Disord. 2015. PMID: 25998610

2

Dried Blood Spot for Screening for Late-Onset Pompe Disease: A Spanish Cohort.

Gutiérrez-Rivas E, Bautista J, Vílchez JJ, Muelas N, Díaz-Manera J, Illa I, Martínez-Arroyo A, Olivé M, Sanz I, Arpa J, Fernández-Torrón R, López de Munáin A, Jiménez L, Solera J, Lukacs Z. Gutiérrez-Rivas E, et al. Among authors: lukacs z. J Neuromuscul Dis. 2015;2(s1):S42. J Neuromuscul Dis. 2015. PMID: 27858636 No abstract available.

3

Homozygosity for the common GAA gene splice site mutation c.-32-13T>G in Pompe disease is associated with the classical adult phenotypical spectrum.

Musumeci O, Thieme A, Claeys KG, Wenninger S, Kley RA, Kuhn M, Lukacs Z, Deschauer M, Gaeta M, Toscano A, Gläser D, Schoser B. Musumeci O, et al. Among authors: lukacs z. Neuromuscul Disord. 2015 Sep;25(9):719-24. doi: 10.1016/j.nmd.2015.07.002. Epub 2015 Jul 10. Neuromuscul Disord. 2015. PMID: 26231297

4

Late-onset Pompe disease is prevalent in unclassified limb-girdle muscular dystrophies.

Preisler N, Lukacs Z, Vinge L, Madsen KL, Husu E, Hansen RS, Duno M, Andersen H, Laub M, Vissing J. Preisler N, et al. Among authors: lukacs z. Mol Genet Metab. 2013 Nov;110(3):287-9. doi: 10.1016/j.ymgme.2013.08.005. Epub 2013 Aug 15. Mol Genet Metab. 2013. PMID: 24011652

5

Prevalence of Pompe disease in 3,076 patients with hyperCKemia and limb-girdle muscular weakness.

Lukacs Z, Nieves Cobos P, Wenninger S, Willis TA, Guglieri M, Roberts M, Quinlivan R, Hilton-Jones D, Evangelista T, Zierz S, Schlotter-Weigel B, Walter MC, Reilich P, Klopstock T, Deschauer M, Straub V, Müller-Felber W, Schoser B. Lukacs Z, et al. Neurology. 2016 Jul 19;87(3):295-8. doi: 10.1212/WNL.0000000000002758. Epub 2016 May 11. Neurology. 2016. PMID: 27170567 Free PMC article.

6

Diagnostic efficacy of the fluorometric determination of enzyme activity for Pompe disease from dried blood specimens compared with lymphocytes-possibility for newborn screening.

Lukacs Z, Nieves Cobos P, Mengel E, Hartung R, Beck M, Deschauer M, Keil A, Santer R. Lukacs Z, et al. J Inherit Metab Dis. 2010 Feb;33(1):43-50. doi: 10.1007/s10545-009-9003-z. Epub 2009 Dec 23. J Inherit Metab Dis. 2010. PMID: 20033296

7

Diagnosis of Pompe disease: muscle biopsy vs blood-based assays.

Vissing J, Lukacs Z, Straub V. Vissing J, et al. Among authors: lukacs z. JAMA Neurol. 2013 Jul;70(7):923-7. doi: 10.1001/2013.jamaneurol.486. JAMA Neurol. 2013. PMID: 23649721 Review.

8

Low Prevalence Estimates of Late-Onset Glycogen Storage Disease Type II in French-Speaking Belgium are not Due to Missed Diagnoses.

Remiche G, Lukacs Z, Kasper DC, Abramowicz M, Pandolfo M. Remiche G, et al. Among authors: lukacs z. J Neuromuscul Dis. 2018;5(4):471-480. doi: 10.3233/JND-180336. J Neuromuscul Dis. 2018. PMID: 30175981

9

Dried blood spots in the diagnosis of lysosomal storage disorders--possibilities for newborn screening and high-risk population screening.

Lukacs Z, Nieves Cobos P, Keil A, Hartung R, Mengel E, Beck M, Deschauer M, Hanisch F, Santer R. Lukacs Z, et al. Clin Biochem. 2011 May;44(7):476. doi: 10.1016/j.clinbiochem.2011.03.008. Clin Biochem. 2011. PMID: 22036333 No abstract available.

10

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.

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