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Inborn errors of metabolism
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Inborn Errors of Metabolism
2006 |
First Faculty of Medicine
publication
Inborn errors of metabolism of sacharides and lipids
Publication without faculty affiliation
publication
Inborn errors of metabolism with megaloblastic anemia
2005 |
First Faculty of Medicine
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Characteristic clinical features and laboratory findings of inborn errors of metabolism
2018 |
First Faculty of Medicine
publication
Gamma-glutamyl transferase activity in the amniotic fluid of fetuses with chromosomal aberrations and inborn errors of metabolism
1987 |
Second Faculty of Medicine
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Hematopoietic stem cell transplantation in children with inborn errors of metabolism and malignant infantile osteopetrosis
2022 |
First Faculty of Medicine, Second Faculty of Medicine
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Intensive care in children with inborn errors of metabolism
+1
Publication without faculty affiliation
publication
Inborn errors of metabolism.
1997 |
Faculty of Physical Education and Sport
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Inborn Errors of Metabolism in Adults: Two Patients with Movement Disorders Caused by Glutaric Aciduria Type 1
2020 |
First Faculty of Medicine
publication
Psychiatric manifestation of inborn errors of metabolism
2015 |
First Faculty of Medicine, Faculty of Physical Education and Sport
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Inborn Errors of Metabolism with Megaloblastic Anemia
2005 |
First Faculty of Medicine
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Elevated homocysteine levels: What inborn errors of metabolism might we be missing?
2023 |
First Faculty of Medicine
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Pitfalls in screening for inborn errors of metabolism (IEM)
+1
Publication without faculty affiliation
publication
Tandem Mass Spectrometry - The Future of Newborn Screening of Inborn Errors of Metabolism
2003 |
First Faculty of Medicine
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Tandem Mass Spectrometry - The Future of Newborn Screening of Inborn Errors of Metabolism
2003 |
Faculty of Physical Education and Sport
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Congenital Disorders of Glycosylation (CDG)
2001 |
Faculty of Medicine in Hradec Králové
publication
Clinical and diagnostic approach in Congenital Disorders of Glycosylation type 2 transferrin pattern
2011 |
Faculty of Medicine in Hradec Králové
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Quality of analytical performance in inherited metabolic disorders: the role of ERNDIM
2008 |
First Faculty of Medicine
publication
Inherited disorders of sulfur amino acid metabolism: recent advances in therapy
2021 |
First Faculty of Medicine
publication
Should patients with Phosphomannomutase 2-CDG (PMM2-CDG) be screened for adrenal insufficiency?
2021 |
First Faculty of Medicine
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Butyrylcholinesterase deficiency or "I remember intubation"
2022 |
First Faculty of Medicine, Second Faculty of Medicine
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Activity of the liver enzyme ornithine carbamoyltransferase (OTC) in blood: LC-MS/MS assay for non-invasive diagnosis of ornithine carbamoyltransferase deficiency
2017 |
First Faculty of Medicine
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Disorders of Sulfur Amino Acid and Hydrogen Sulfide Metabolism
2022 |
First Faculty of Medicine
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Disorders of Sulfur Amino Acid Metabolism
2022 |
First Faculty of Medicine
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Determination of the spectrum of low molecular mass organic acids in urine by capillary electrophoresis with contactless conductivity and ultraviolet photometric detection - An efficient tool for monitoring of inborn metabolic disorders
2011 |
Faculty of Science
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Newborn screening of inherited metabolic diseases in the Czech Republic
+1
2018 |
First Faculty of Medicine, Third Faculty of Medicine
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The role of ERNDIM diagnostic proficiency schemes in improving the quality of diagnostic testing for inherited metabolic diseases
2022 |
First Faculty of Medicine