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Search for publications relevant for "coa dehydrogenase-deficiency"
coa dehydrogenase-deficiency
Publication
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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
Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCAD) and Long Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency (LCHAD): Clinical, Biochemical and Molecular Study in Ten Children
1998 |
Faculty of Physical Education and Sport
publication
The metabolic and molecular study in six children with short-chain acyl-CoA dehydrogenase deficiency
Publication without faculty affiliation
publication
Neonatal screening in the Czech Republic: increased prevalence of selected diseases in low birthweight neonates
2018 |
Second Faculty of Medicine, First Faculty of Medicine, Third Faculty of Medicine
publication
Impact of age at onset and newborn screening on outcome in organic acidurias
2016 |
First Faculty of Medicine
publication
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation
2015 |
First Faculty of Medicine
publication
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype
2015 |
First Faculty of Medicine
publication
Enhanced interpretation of newborn screening results without analyte cutoff values
2012 |
Publication without faculty affiliation
publication
Adult Form of Glutaric Aciduria Type II - Underdiagnosed Cause of Proximal Myopathy - a Case Report
2009 |
Second Faculty of Medicine
publication
Epidemiology of rare diseases detected by newborn screening in the Czech Republic
2019 |
Second Faculty of Medicine, First Faculty of Medicine, Third Faculty of Medicine
publication
Results of expanded newborn screening in the Czech Republic
2014 |
Second Faculty of Medicine, First Faculty of Medicine, Third Faculty of Medicine
publication
Neonatal screening in the Czech Republic
2010 |
First Faculty of Medicine, Third Faculty of Medicine