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Prader-willi syndrome
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prof. MUDr. Tomáš Honzík Ph.D.
Academic staff at First Faculty of Medicine
12 classes
251 publications
Classes
class
Paediatrics
B00141 |
First Faculty of Medicine
class
Propaedeutics in Paediatrics - Summer Practice
B00609 |
First Faculty of Medicine
class
Propaedeutics in Paediatrics
+2
B00610 |
First Faculty of Medicine
class
Paediatrics Practice before State Examination
B01057 |
First Faculty of Medicine
class
Paediatrics - Summer Practice
+1
B03304 |
First Faculty of Medicine
class
Pediatric Nursing 1
B03453 |
First Faculty of Medicine
class
Paediatric Nursing 2
B03468 |
First Faculty of Medicine
class
Paediatrics SE
B80141 |
First Faculty of Medicine
class
Curriculum of Paediatrics before State Examination
B81057 |
First Faculty of Medicine
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Publications
publication
Hepatocellular carcinoma in an infant with tyrosinemia type 1
2023 |
First Faculty of Medicine, Second Faculty of Medicine
publication
Case report: A rare variant m.4135T>C in the MT-ND1 gene leads to Leber hereditary optic neuropathy and altered respiratory chain supercomplexes
+1
2023 |
Faculty of Science, First Faculty of Medicine
publication
Genetic findings in Czech patients with limb girdle muscular dystrophy
2023 |
First Faculty of Medicine, Second Faculty of Medicine
publication
První český pacient s deficitem aminoacylázy 1
2023 |
First Faculty of Medicine
publication
Inherited disorders of carbohydrate metabolism
2023 |
First Faculty of Medicine
publication
Late diagnosis of mucopolysaccharidosis type I in a girl with hand contractures
2023 |
First Faculty of Medicine
publication
Complex metabolic disharmony in PMM2-CDG paves the way to new therapeutic approaches
2023 |
First Faculty of Medicine
publication
Metabolic adaptation of human skin fibroblasts to ER stress caused by glycosylation defect in PMM2-CDG
2023 |
First Faculty of Medicine
publication
Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes
2023 |
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
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