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Search for publications relevant for "glutaric aciduria"
glutaric aciduria
Publication
Class
Person
Publication
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publication
Glutaric aciduria type I
Publication without faculty affiliation
publication
Inborn Errors of Metabolism in Adults: Two Patients with Movement Disorders Caused by Glutaric Aciduria Type 1
2020 |
First Faculty of Medicine
publication
Adult Form of Glutaric Aciduria Type II - Underdiagnosed Cause of Proximal Myopathy - a Case Report
2009 |
Second 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
Results of expanded newborn screening in the Czech Republic
2014 |
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
Neonatal screening in the Czech Republic
2010 |
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
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation
2015 |
First 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