Petr Chrastina

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

Enhanced interpretation of newborn screening results without analyte cutoff values

Gregg Marquardt, Robert J. Currier, David McHugh et al. · Genetics in Medicine · 2012 · 123 citations · Full text

Early Diagnosis, Newborn Screening, Neonatology +8

Prosaposin deficiency and saposin B deficiency (activator‐deficient metachromatic leukodystrophy): Report on two patients detected by analysis of urinary sphingolipids and carrying novel PSAP gene mutations

Ladislav Kuchař, J. Ledvinová, Martin Hřebı́ček et al. · American Journal of Medical Genetics Part A · 2009 · 83 citations · Full text

Urology, Saposin B Deficiency, Autoimmune Disease +15

Determination of creatinine in urine by tandem mass spectrometry

Renáta Húšková, Petr Chrastina, Tomáš Adam et al. · Clinica Chimica Acta · 2004 · 57 citations

Urology, Renal Function, Mass Spectrometry +5

Newborn screening for homocystinurias: Recent recommendations versus current practice

Rebecca Keller, Petr Chrastina, Markéta Pavlı́ková et al. · Journal of Inherited Metabolic Disease · 2019 · 45 citations · Full text