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Validity of a rapid and simple fluorometric tripeptidyl peptidase 1 (TPP1) assay using dried blood specimens to diagnose CLN2 disease.
Clin Chim Acta. 2019 May;492:69-71. doi: 10.1016/j.cca.2019.02.010. Epub 2019 Feb 13.
Clin Chim Acta. 2019.
PMID: 30771299
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. Among authors: nieves cobos p.
Clin Biochem. 2011 May;44(7):476. doi: 10.1016/j.clinbiochem.2011.03.008.
Clin Biochem. 2011.
PMID: 22036333
No abstract available.
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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. Among authors: nieves cobos p.
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
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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: nieves cobos p.
Clin Chem Lab Med. 2020 Apr 28;58(5):810-816. doi: 10.1515/cclm-2019-0832.
Clin Chem Lab Med. 2020.
PMID: 32031968
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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. Among authors: nieves cobos p.
Neurology. 2016 Jul 19;87(3):295-8. doi: 10.1212/WNL.0000000000002758. Epub 2016 May 11.
Neurology. 2016.
PMID: 27170567
Free PMC article.
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At-Risk Testing for Pompe Disease Using Dried Blood Spots: Lessons Learned for Newborn Screening.
Lukacs Z, Oliva P, Nieves Cobos P, Scott J, Mechtler TP, Kasper DC.
Lukacs Z, et al. Among authors: nieves cobos p.
Int J Neonatal Screen. 2020 Dec 21;6(4):96. doi: 10.3390/ijns6040096.
Int J Neonatal Screen. 2020.
PMID: 33371305
Free PMC article.
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