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mucopolysaccharidosis
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doc. MUDr. Martin Magner Ph.D.
Academic staff at First Faculty of Medicine
4 classes
119 publications
Classes
class
Child Nutrition II.
+1
B02740 |
First Faculty of Medicine
class
Child Nutrition I.
+1
B03291 |
First Faculty of Medicine
Publications
publication
Quality of life of persons taking care of children with hereditary metabolic disease
2012 |
First Faculty of Medicine
publication
Mucopolysaccharidosis I – clinical manifestations in 24 children from the Czech Republic and Slovakia
2011 |
First Faculty of Medicine
publication
Rapid and accurate denaturating high performance liquid chromatography protocol for the detection of alpha-L-iduronidase mutations causing mucopolysaccharidosis type I
2010 |
First Faculty of Medicine
publication
Mucopolysaccharidosis Type I in 21 Czech and Slovak Patients: Mutation Analysis Suggests a Functional Importance of C-Terminus of the IDUA Protein
2009 |
First Faculty of Medicine
publication
Molecular analysis of idua gene in 19 Czech and Slovak patients with mucopolysaccharidosis type I
Publication without faculty affiliation
publication
Adenotonsillar pathology in mucopolysaccharidoses - lysosomal storage predominates in paracortical CD63+ cells
2024 |
First Faculty of Medicine, Second Faculty of Medicine
publication
B cell phenotype and serum levels of interferons, BAFF, and APRIL in multisystem inflammatory syndrome in children associated with COVID-19 (MIS-C)
2023 |
First Faculty of Medicine, Second Faculty of Medicine, Faculty of Medicine in Pilsen
publication
Tuberculous spondylitis or Pott's disease - a relic of the past?
2023 |
First Faculty of Medicine, Second Faculty of Medicine
publication
Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype
2023 |
First Faculty of Medicine
publication
Sulforaphane Treatment in Children with Autism: A Prospective Randomized Double-Blind Study
2023 |
First Faculty of Medicine
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