Mariusz Ołtarzewski

Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project

David McHugh, Cynthia A. Cameron, José E. Abdenur et al. · Genetics in Medicine · 2011 · 349 citations · Full text

Metabolic Syndrome, Newborn Screening, Metabolic Disorder +10

The Genetic Landscape and Epidemiology of Phenylketonuria

Alicia Hillert, Yair Anikster, Amaya Bélanger-Quintana et al. · The American Journal of Human Genetics · 2020 · 339 citations · Full text

Genetic Landscape, Genetic Disorder, Medicine +6

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 · 221 citations · Full text

Identification of infants with increased type 1 diabetes genetic risk for enrollment into Primary Prevention Trials—GPPAD‐02 study design and first results

Christiane Winkler, Florian Haupt, Martin Heigermoser et al. · Pediatric Diabetes · 2019 · 55 citations · Full text

Family Medicine, Genetic Testing, Genetic Epidemiology +22

Urgent metabolic service improves survival in long‐chain 3‐hydroxyacyl‐CoA dehydrogenase (LCHAD) deficiency detected by symptomatic identification and pilot newborn screening

Jolanta Sykut‐Cegielska, Wanda Gradowska, Dorota Piekutowska‐Abramczuk et al. · Journal of Inherited Metabolic Disease · 2010 · 38 citations