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3-methylglutaconic aciduria
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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
Novel Mutations in the TAZ Gene in Patients with Barth Syndrome
2013 |
First Faculty of Medicine
publication
Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation
2010 |
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
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