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Nutrients|September 28, 2021
Impact of Newborn Screening and Early Dietary Management on Clinical Outcome of Patients with Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency and Medium Chain Acyl-CoA Dehydrogenase Deficiency-A Retrospective Nationwide StudyKristina Rücklová, Eva Hrubá, Markéta Pavlíková, et al.
American Journal of Medical Genetics. Part A|March 10, 2009
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 mutationsLadislav Kuchar, Jana Ledvinová, Martin Hrebícek, et al.
Central European Journal of Public Health|June 27, 2019
Epidemiology of rare diseases detected by newborn screening in the Czech RepublicJan David, Petr Chrastina, Karolina Pešková, et al.
International Journal of Neonatal Screening|May 27, 2026
Pilot Newborn Screening for Vitamin B12 Deficiency in the Czech Republic: Results and Detailed Studies on Identified Babies and Their MothersSamuel Stanovský, Josef Bártl, Petr Chrastina, et al.
Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology|May 5, 2025
Beyond TREC: Pivotal role of tandem TREC/KREC assay in Czech SCID NBS pilot programmeMarkéta Bloomfield, Eva Hlaváčková, Helena Schneiderová, et al.
Journal of Inherited Metabolic Disease|February 12, 2019
Newborn screening for homocystinurias: Recent recommendations versus current practiceRebecca Keller, Petr Chrastina, Markéta Pavlíková, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 7, 2012
Enhanced interpretation of newborn screening results without analyte cutoff valuesGregg Marquardt, Robert Currier, David M S McHugh, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 18, 2011
Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative projectDavid M S McHugh, Cynthia A Cameron, Jose E Abdenur, et al.
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