Petr Chrastina
Charles University(CZ)General University Hospital in Prague(CZ)
Publications by Year
Research Areas
Metabolism and Genetic Disorders, Neonatal Health and Biochemistry, Folate and B Vitamins Research, Mitochondrial Function and Pathology, Genomics and Rare Diseases
Most-Cited Works
- → Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project(2011)349 cited
- → Enhanced interpretation of newborn screening results without analyte cutoff values(2012)123 cited
- → 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(2009)84 cited
- → Determination of creatinine in urine by tandem mass spectrometry(2004)57 cited
- → Newborn screening for homocystinurias: Recent recommendations versus current practice(2019)46 cited
- → Simultaneous determination of cystathionine, total homocysteine, and methionine in dried blood spots by liquid chromatography/tandem mass spectrometry and its utility for the management of patients with homocystinuria(2014)38 cited
- Novel mutations in a boy with dihydrolipoamide dehydrogenase deficiency.(2002)
- → Epidemiology of rare diseases detected by newborn screening in the Czech Republic(2019)26 cited
- → Carnitine supplementation alleviates lipid metabolism derangements and protects against oxidative stress in non-obese hereditary hypertriglyceridemic rats(2014)20 cited
- → Abnormalities in succinylpurines in fumarase deficiency: Possible role in pathogenesis of CNS impairment(2000)17 cited