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inherited metabolic disorders
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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
Importance of early diagnostics of inherited metabolic disorders in neonatal age
2013 |
First Faculty of Medicine
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
publication
Quantitative brain morphometry identifies cerebellar, cortical, and subcortical gray and white matter atrophy in late-onset Tay-Sachs disease
2023 |
First Faculty of Medicine
publication
Long-Term Evaluation of Biomarkers in the Czech Cohort of Gaucher Patients
2023 |
First Faculty of Medicine
publication
Transient Hyperphosphatasemia in a Child with Autism Spectrum Disorder
2022 |
First Faculty of Medicine, Central Library of Charles University, Faculty of Medicine in Pilsen
publication
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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