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neonatal screening
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Neonatal screening for phenylketonuria
2006 |
Third Faculty of Medicine
publication
Neonatal screening for congenital adrenal hyperplasia
1999 |
Third Faculty of Medicine
publication
Neonatal screening - study of the age at sampling and of the time till delivery to laboratory
2001 |
Third Faculty of Medicine
publication
Neonatal screening in the Czech Republic
2010 |
First Faculty of Medicine, Third Faculty of Medicine
publication
Neonatal Screening for Cystic Fibrosis (Review)
2005 |
Third Faculty of Medicine, Second 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 in the Czech Republic - Results of a One-year Pilot Study in Males
2002 |
Third Faculty of Medicine
publication
European best practice guidelines for cystic fibrosis neonatal screening
2009 |
Second 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
Pendred syndrome among patients with congenital hypothyroidism detected by neonatal screening: identification of two novel PDS/SLC26A4 mutations
2008 |
Third Faculty of Medicine, Second Faculty of Medicine
publication
Neonatal screening in the Czech Republic: increased prevalence of selected diseases in low birthweight neonates
2018 |
First Faculty of Medicine, Third Faculty of Medicine, Second Faculty of Medicine
publication
7 Neonatal screening
2019 |
Third Faculty of Medicine
publication
Care of the Newborn and the Neonatal Screening
Publication without faculty affiliation
publication
Two patients with methylcrotonylglycinuria diagnose by MS/MS neonatal screening
Publication without faculty affiliation
publication
3.1 Neonatal screening of dried blood drops
2014 |
Third Faculty of Medicine
publication
Life with congenital hypothyroidism: yesterday and today
2015 |
Third 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
Prevention in paediatrics
2023 |
Second Faculty of Medicine
publication
Clinical Diagnosis of Patients with Congenital Adrenal Hyperplasia: Where do Boys Vanish?
1999 |
Third Faculty of Medicine, Central Library of Charles University
publication
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 study
2021 |
First Faculty of Medicine, Third Faculty of Medicine, Faculty of Mathematics and Physics
publication
Early recognition of thyroid disease in children and adolescents
2005 |
Third Faculty of Medicine
publication
A European consensus for the evaluation and management of infants with an equivocal diagnosis following newborn screening for cystic fibrosis
2009 |
Third Faculty of Medicine, Second Faculty of Medicine
publication
Diagnostics, treatment and prognosis of congenital hypothyroidism
2018 |
Third Faculty of Medicine
publication
Severe combined immunodeficiencies
2023 |
Faculty of Medicine in Hradec Králové
publication
Iodine intake monitoring in neonatal population in the Czech Republic: alarming numbers in 2020
2021 |
Third Faculty of Medicine
publication
HIV Drug Efavirenz Inhibits CYP21A2 Activity with Possible Clinical Implications
2019 |
Second Faculty of Medicine
publication
Cost-Effectiveness of Neonatal Hearing Screening Programs: A Micro-Simulation Modeling Analysis
Publication without faculty affiliation
publication
Thyroid function testing in neonates born to women with hypothyroidism
2016 |
Third Faculty of Medicine
publication
Advances in treatment of lysosomal storage diseases
2022 |
First Faculty of Medicine
publication
Hypothyroidism in three generations
Publication without faculty affiliation