Mária Knapková

Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010

J.G. Loeber, Dimitris Platis, Rolf Zetterström et al. · International Journal of Neonatal Screening · 2021 · 234 citations · Full text

Medicine, Biomedical Sciences, Early Detection +16

European survey of newborn bloodspot screening for CF: opportunity to address challenges and improve performance

À. Munck, Daria Berger, Kevin W Southern et al. · Journal of Cystic Fibrosis · 2022 · 32 citations · Full text

Medicine, Child Health, Pediatrics +12

An unusually high frequency of SCAD deficiency caused by two pathogenic variants in the ACADS gene and its relationship to the ethnic structure in Slovakia

Jana Lisyová, Ján Chandoga, Petra Jungová et al. · BMC Medical Genetics · 2018 · 26 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Regulatory landscape of providing information on newborn screening to parents across Europe

Věra Franková, Riona O. Driscoll, Marleen E. Jansen et al. · European Journal of Human Genetics · 2020 · 21 citations · Full text

Medicine, Health Policy, Pediatrics +12

A newborn screening approach to diagnose 3‐hydroxy‐3‐methylglutaryl‐CoA lyase deficiency

Jan Václavík, Lucie Mádrová, Štěpán Kouřil et al. · JIMD Reports · 2020 · 20 citations · Full text

Life Sciences, Biochemistry, Clinical Biochemistry +16