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phenylketonuria
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Phenylketonuria
2013 |
Faculty of Medicine in Pilsen
publication
Neonatal screening for phenylketonuria
2006 |
Third Faculty of Medicine
publication
Phenylketonuria and its genetic background
2002 |
Third Faculty of Medicine
publication
Brain metabolism and electrogenesis in phenylketonuria
2015 |
Faculty of Medicine in Pilsen
publication
MR in Phenylketonuria-Related Brain Lesions
2001 |
First Faculty of Medicine, Third Faculty of Medicine, Second Faculty of Medicine
publication
Teratogenic phenylketonuria-related embryopathy
2007 |
Second Faculty of Medicine
publication
Osteopenia - a potential complication of phenylketonuria
2011 |
Faculty of Medicine in Hradec Králové
publication
Phenylketonuria: Inovative therapy with sapropterin
2018 |
Third Faculty of Medicine
publication
Extremely low birthweight neonates with phenylketonuria require special dietary management
2021 |
First Faculty of Medicine, Central Library of Charles University
publication
Long-term efficacy and safety of sapropterin in patients who initiated sapropterin at < 4 years of age with phenylketonuria: results of the 3-year extension of the SPARK open-label, multicentre, randomised phase IIIb trial
2021 |
Third Faculty of Medicine
publication
Dietary patterns, cost and compliance with low-protein diet of phenylketonuria and other inherited metabolic diseases
2018 |
First Faculty of Medicine
publication
Efficacy, safety and population pharmacokinetics of sapropterin in PKU patients < 4 years: results from the SPARK open-label, multicentre, randomized phase IIIb trial
2017 |
Central Library of Charles University
publication
Neonatal screening in the Czech Republic
2010 |
First Faculty of Medicine, Third Faculty of Medicine
publication
Inborn errors of amino acid, organic acid metabolism and disorders of the urea cycle
2022 |
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
The Newborn Screening in the Czech Republic and Europe
2008 |
Third Faculty of Medicine
publication
Cystathionine beta-synthase mutants exhibit changes in protein unfolding: conformational analysis of misfolded variants in crude cell extracts
2012 |
First Faculty of Medicine
publication
The effect of diet regime in phenylketonuric patient on bone mineral density
Publication without faculty affiliation
publication
Maternal hyperphenylalaninemias in healthy Czech population of pregnant women: 30 years experience with screening, prevention and treatment
2004 |
First Faculty of Medicine
publication
Results of a Screening Programme of Hearing Disorders in Neonates in the Faculty Hospital Prague-Motol in 1997-1998
1999 |
Second Faculty of Medicine, Central Library of Charles University
publication
Neonatal screening for congenital adrenal hyperplasia
1999 |
Third 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
Screening for the IDDM high-risk genotype. A rapid microtitre plate method using serum as source of DNA
2000 |
Second Faculty of Medicine
publication
Laboratory newborn screening
2022 |
First Faculty of Medicine, Third Faculty of Medicine
publication
Targeted metabolomic analysis of plasma samples for the diagnosis of inherited metabolic disorders
2012 |
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
Metabolism of sulfur compounds in homocystinurias
2019 |
First Faculty of Medicine
publication
Epidemiology of rare diseases detected by newborn screening in the Czech Republic
2019 |
First Faculty of Medicine, Third Faculty of Medicine, Second Faculty of Medicine