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Search for publications relevant for "hereditary metabolic diseases"
hereditary metabolic diseases
Publication
Class
Person
Publication
Programmes
publication
Tandem mass spectrometry in newborn screening of hereditary metabolic diseases
2005 |
Faculty of Physical Education and Sport
publication
Differential diagnostics of hyperuricaemia in hereditary metabolic diseases
2005 |
Faculty of Physical Education and Sport
publication
Quality of life of persons taking care of children with hereditary metabolic disease
2012 |
First Faculty of Medicine
publication
Hereditary metabolic diseases
2010 |
First Faculty of Medicine
publication
Availability, accessibility and delivery to patients of the 28 orphan medicines approved by the European Medicine Agency for hereditary metabolic diseases in the MetabERN network
Publication without faculty affiliation
publication
View of examination of metabolites for hereditary metabolic diseases
Publication without faculty affiliation
publication
Differential diagnostics of hyperuricaemia in hereditary metabolic diseases
2005 |
First Faculty of Medicine
publication
Research activity and capability in the European reference network MetabERN
Publication without faculty affiliation
publication
Clinical Nutrition
2021 |
First Faculty of Medicine, Faculty of Physical Education and Sport, Third Faculty of Medicine, Central Library of Charles University, Faculty of Medicine in Pilsen, Second Faculty of Medicine, Faculty of Pharmacy in Hradec Králové, Faculty of Medicine in Hradec Králové
publication
Metabolic compendium 2006
2005 |
First Faculty of Medicine
publication
Newborn screening of inherited metabolic disorders by tandem mass spectrometry
2005 |
First Faculty of Medicine
publication
Gaucher disease - current possibilities of therapy
2019 |
First Faculty of Medicine
publication
Fabry's disease from the point of view of nephrology
2015 |
First Faculty of Medicine
publication
Pediatric neurology
2021 |
First Faculty of Medicine, Second Faculty of Medicine
publication
Wilson Disease
2013 |
First Faculty of Medicine
publication
Shared decision-making and goals of care setting in a child with progressive renal failure caused by primary hyperoxaluria
2023 |
First Faculty of Medicine