Paulina Nieves Cobos

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

Zoltán Lukács, Paulina Nieves Cobos, Stephan Wenninger et al. · Neurology · 2016 · 78 citations

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

Zoltán Lukács, Paulina Nieves Cobos, Eugen Mengel et al. · Journal of Inherited Metabolic Disease · 2009 · 42 citations

Diagnostic strategy for females suspected of Fabry disease

Sukirthini Balendran, Petra Oliva, Stefaan Sansen et al. · Clinical Genetics · 2019 · 37 citations

The Prevalence of Sickle Cell Disease and Its Implication for Newborn Screening in Germany (Hamburg Metropolitan Area)

Regine Grosse, Zoltán Lukács, Paulina Nieves Cobos et al. · Pediatric Blood & Cancer · 2015 · 32 citations

Dried Blood Spots Allow Targeted Screening to Diagnose Mucopolysaccharidosis and Mucolipidosis

Paulina Nieves Cobos, Cordula Steglich, René Santer et al. · JIMD Reports · 2014 · 25 citations · Full text