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cpap
Person
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Person
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Eva Hrubá
External person at First Faculty of Medicine
27 publications
Publications
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
NOTCH2NLC CGG Repeats Are Not Expanded and Skin Biopsy Was Negative in an Infantile Patient With Neuronal Intranuclear Inclusion Disease
2020 |
First Faculty of Medicine, Faculty of Medicine in Pilsen, Third Faculty of Medicine
publication
Genotype-phenotype correlation in 44 Czech, Slovak, Croatian and Serbian patients with mucopolysaccharidosis type II
2017 |
First Faculty of Medicine
publication
Rhabdomyolysis as the manifestation of in born energy metabolism error in 2-year-old boy
2014 |
Publication without faculty affiliation
publication
Clinical presentation and metabolic consequences in 40 breastfed infants with nutritional vitamin B-12 deficiency - What have we learned?
2010 |
First Faculty of Medicine
publication
Vitamin B 12 deficiency in breastfed infants-treatable cause of psychomotor retardation: etiology, clinical signs and laboratory findings
2008 |
First Faculty of Medicine
publication
Methylmalonic Acidemia : clinical, biochemical a molecular biological studie
2006 |
First Faculty of Medicine
publication
Methylmalonic Acidemia : clinical, biochemical a molecular biological studie
2006 |
Faculty of Physical Education and Sport
publication
Metabolic compendium 2006
2005 |
First Faculty of Medicine
publication
Acute hyperammonaemic encephalopathy in a female newborn caused by a novel, de novo mutation in the ornithine transcarbamylase gene
2004 |
First Faculty of Medicine
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