Validity of a rapid and simple fluorometric tripeptidyl peptidase 1 (TPP1) assay using dried blood specimens to diagnose CLN2 disease

Autor: Lukacs, Zoltan, Nickel, Miriam, Murko, Simona, Nieves Cobos, Paulina, Schulz, Angela, Santer, René, Kohlschütter, Alfried

Publikováno v: In Clinica Chimica Acta May 2019 492:69-71

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

Autor: Lukacs, Zoltan, Nieves Cobos, Paulina, Wenninger, Stephan, Willis, Tracey A., Guglieri, Michela, Roberts, Marc, Quinlivan, Rosaline, Hilton-Jones, David, Evangelista, Teresinha, Zierz, Stephan, Schlotter-Weigel, Beate, Walter, Maggie C., Reilich, Peter, Klopstock, Thomas, Deschauer, Marcus, Straub, Volker, Müller-Felber, Wolfgang, Schoser, Benedikt

Publikováno v: Neurology; 7/19/2016, Vol. 87 Issue 3, p295-298, 4p

At-Risk Testing for Pompe Disease Using Dried Blood Spots: Lessons Learned for Newborn Screening.

Autor: Lukacs Z; Newborn Screening and Metabolic Diagnostics Unit, Hamburg University Medical Center, 20251 Hamburg, Germany., Oliva P; ARCHIMED Life Science GmbH, 1110 Vienna, Austria., Nieves Cobos P; Newborn Screening and Metabolic Diagnostics Unit, Hamburg University Medical Center, 20251 Hamburg, Germany., Scott J; ARCHIMED Life Science GmbH, 1110 Vienna, Austria., Mechtler TP; ARCHIMED Life Science GmbH, 1110 Vienna, Austria., Kasper DC; ARCHIMED Life Science GmbH, 1110 Vienna, Austria.

Publikováno v: International journal of neonatal screening [Int J Neonatal Screen] 2020 Dec 21; Vol. 6 (4). Date of Electronic Publication: 2020 Dec 21.