Zobrazeno 1 - 10
of 19
pro vyhledávání: '"Paulina Nieves Cobos"'
Autor:
Lukacs Zoltan, Paulina Nieves Cobos, Stephan Wenninger, Tracey A. Willis, Michela Guglieri, Marc Roberts, Rosaline Quinlivan, David Hilton-Jones, Teresinha Evangelista, Stephan Zierz, Beate Schlotter-Weigel, Maggie C Walter, Peter Reilich, Thomas Klopstock, Marcus Deschauer, Volker Straub, Wolfgang Müller-Felber, Benedikt Schoser
Publikováno v:
Нервно-мышечные болезни, Vol 6, Iss 3, Pp 24-27 (2019)
Externí odkaz:
https://doaj.org/article/4ec0d1645281460598905760d4b17f8a
Autor:
Zoltan Lukacs, Petra Oliva, Paulina Nieves Cobos, Jacob Scott, Thomas P. Mechtler, David C. Kasper
Publikováno v:
International Journal of Neonatal Screening, Vol 6, Iss 4, p 96 (2020)
Pompe disease (GSD II) is an autosomal recessive disorder caused by deficiency of the lysosomal enzyme acid-α-glucosidase (GAA, EC 3.2.1.20), leading to generalized accumulation of lysosomal glycogen especially in the heart, skeletal, and smooth mus
Externí odkaz:
https://doaj.org/article/7a9076a7fdcf474eb8c3ff88343c2e95
Autor:
Thomas P. Mechtler, David C. Kasper, Regine Grosse, Zoltan Lukacs, Markus Schwarz, Paulina Nieves Cobos, Xiaolei Xie, Thomas Wiesinger
Publikováno v:
Clinical Chemistry and Laboratory Medicine (CCLM). 58:810-816
A fast and reliable method for the determination of hemoglobinopathies and thalassemias by high-resolution accurate mass spectrometry (HRAM/MS) is presented. The established method was verified in a prospective clinical study (HRAM/MS vs. high-pressu
Autor:
Thomas P. Mechtler, David D.C. Kasper, Zoltan Lukacs, Sukirthini Balendran, Paulina Nieves Cobos, Berthold Streubel, Stefaan Sansen, Petra Oliva
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2c9d92d03e8d554f655e3dfaaed2e334
https://doi.org/10.1111/cge.13694/v2/response1
https://doi.org/10.1111/cge.13694/v2/response1
Autor:
Paulina Nieves Cobos, Alfried Kohlschütter, Angela Schulz, Miriam Nickel, René Santer, Simona Murko, Zoltan Lukacs
Publikováno v:
Clinica Chimica Acta. 492:69-71
Purpose CLN2 disease is a genetic disorder caused by dysfunction of the lysosomal enzyme tripeptidyl peptidase 1 (TPP1) that belongs to the neuronal ceroid lipofuscinoses (NCL) and leads to epilepsy, dementia, and death in young persons. CLN2 disease
Autor:
Thomas P. Mechtler, Paulina Nieves Cobos, Sukirhini Balendran, David C. Kasper, Berthold Streubel, Stefaan Sansen, Zoltan Lukacs, Petra Oliva
Publikováno v:
Clinical geneticsREFERENCES. 97(4)
A total of 11 948 females suspicious of Fabry disease were tested by a combined biochemical and genetic approach. The enzyme activity, together with the concentration of lyso-GL-3 (lyso-Gb3) biomarker in dried blood spots (DBS), substantially improve
Autor:
Teresinha Evangelista, Thomas Klopstock, Peter Reilich, Tracey Willis, David Hilton-Jones, Michela Guglieri, Stephan Wenninger, Wolfgang Müller-Felber, V. Straub, Maggie C. Walter, Stephan Zierz, Paulina Nieves Cobos, Beate Schlotter-Weigel, Marcus Deschauer, Lukacs Zoltan, Marc Roberts, Rosaline Quinlivan, Benedikt Schoser
Publikováno v:
Neuromuscular Diseases. 6:24-27
Comparison of tripeptidyl peptidase 1 (CLN2) measurement by fluorometry and tandem mass spectrometry
Publikováno v:
Molecular Genetics and Metabolism. 129:S103
Autor:
Zoltan Lukacs, Paulina Nieves Cobos, Markus Schwarz, Berthold Streubel, David C. Kasper, Thomas P. Mechtler, Sukirhini Balendran, Petra Oliva
Publikováno v:
Molecular Genetics and Metabolism. 129:S121
Publikováno v:
Molecular Genetics and Metabolism. 129:S103