Josef Bártl

Modern diagnostic approach to hereditary xanthinuria

Martin Mraz, Olha Hurba, Josef Bártl et al. · Urolithiasis · 2014 · 51 citations

Urology, Mendelian Disorder, Genetic Disorder +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

Novel mutations in xanthine dehydrogenase/oxidase cause severe hypouricemia: Biochemical and molecular genetic analysis in two Czech families with xanthinuria type I

Blanka Stibůrková, Jakub Krijt, Petr Vyleťal et al. · Clinica Chimica Acta · 2011 · 43 citations

Biochemistry, Genetics, Inherited Metabolic Disease +6

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

Josef Bártl, Petr Chrastina, Jakub Krijt et al. · Clinica Chimica Acta · 2014 · 38 citations

Dried Blood Spots, Medicine, Bioanalysis +9

Diagnostic Tests for Primary Renal Hypouricemia

Ivan Šebesta, Blanka Stibůrková, Josef Bártl et al. · Nucleosides Nucleotides & Nucleic Acids · 2011 · 37 citations

Glomerular Disease, Renal Pathology, Diagnosis +24