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dried blood spot
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Stability of 17 alpha-hydroxyprogesterone in dried blood spots after autoclaving and prolonged storage
2002 |
Third Faculty of Medicine
publication
Long-term stability of amino acids and acylcarnitines in dried blood spots
2007 |
Third Faculty of Medicine, Second Faculty of Medicine
publication
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 |
First Faculty of Medicine
publication
Screening for adenylosuccinate lyase deficiency using tandem mass spectrometry analysis of succinylpurines in neonatal dried blood spots
2015 |
First Faculty of Medicine
publication
Genetic analysis of the CYP21A2 gene in neonatal dried blood spots from children with transiently elevated 17-hydroxyprogesterone
2012 |
Third Faculty of Medicine, Second Faculty of Medicine
publication
Influence of hematocrit and localisation of punch in dried blood spots on levels of amino acids and acylcarnitines measured by tandem mass spectrometry
2006 |
Third Faculty of Medicine
publication
Immunoradiometric and luminescence immunoenzymometric assay of human thyrotropin from dried blood spots for screening of neonatal hypothyroidism
1996 |
First Faculty of Medicine
publication
Clinical and genetic characteristics of two patients with tyrosinemia type 1 in Slovenia - A novel fumarylacetoacetate hydrolase (FAH) intronic disease-causing variant
2022 |
First Faculty of Medicine
publication
Newborn screening of inherited metabolic diseases in the Czech Republic
+1
2018 |
First Faculty of Medicine, Third Faculty of Medicine
publication
Newborn Screening in a Pandemic-Lessons Learned
2023 |
First Faculty of Medicine
publication
Results of expanded newborn screening in the Czech Republic
2014 |
First Faculty of Medicine, Third Faculty of Medicine, Second Faculty of Medicine
publication
Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines
2015 |
First Faculty of Medicine
publication
Tandem Mass Spectrometry of Sphingolipids: Applications for Diagnosis of Sphingolipidoses
2016 |
First Faculty of Medicine
publication
Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency
2017 |
First Faculty of Medicine
publication
Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010
2021 |
First Faculty of Medicine
publication
Current state of bioanalytical chromatography in clinical analysis
2018 |
Faculty of Pharmacy in Hradec Králové
publication
Capturing phenotypic heterogeneity in MPS I: results of an international consensus procedure
2012 |
First Faculty of Medicine
publication
Quantitation of plasmatic lysosphingomyelin and lysosphingomyelin-509 for differential screening of Niemann-Pick A/B and C diseases
2017 |
First Faculty of Medicine
publication
Prenatal and postnatal development of the adrenal glands and adrenal steroid synthesis: effect on newborn screening for congenital adrenal hyperplasia
2012 |
Third Faculty of Medicine, Second Faculty of Medicine
publication
Neonatal screening for congenital adrenal hyperplasia
1999 |
Third Faculty of Medicine
publication
Late manifestation of Pompe disease
2014 |
Publication without faculty affiliation
publication
Estimation of the false-negative rate in newborn screening for congenital adrenal hyperplasia
2005 |
Third Faculty of Medicine, Second Faculty of Medicine
publication
Neonatal Screening for Congenital Adrenal Hyperplasia in the Czech Republic - Results of a One-year Pilot Study in Males
2002 |
Third Faculty of Medicine
publication
Procedure in the suspected case of the 21-hydroxylase deficiency detected in Czech newborn screening
2017 |
Third Faculty of Medicine
publication
Neonatal screening in the Czech Republic
2010 |
First Faculty of Medicine, Third Faculty of Medicine
publication
The Newborn Screening for Cystic Fibrosis in the Czech Republic: Results of Pilot Study
2007 |
Third Faculty of Medicine, Second Faculty of Medicine
publication
Newborn Screening for Cystic Fibrosis in the Czech Republic: Results of a Pilot Study
2007 |
Second Faculty of Medicine
publication
Prevalence of Fabry disease in male patients with unexplained left ventricular hypertrophy in primary cardiology practice: prospective Fabry cardiomyopathy screening study (FACSS)
2014 |
First Faculty of Medicine
publication
Laboratory newborn screening
2022 |
First Faculty of Medicine, Third Faculty of Medicine