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deficience
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Person
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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
Mosaic tissue distribution of the tandem duplication of LAMP2 exons 4 and 5 demonstrates the limits of Danon disease cellular and molecular diagnostics
2014 |
First Faculty of Medicine, Second Faculty of Medicine
publication
Clinical Effect and Safety Profile of Recombinant Human Lysosomal Acid Lipase in Patients With Cholesteryl Ester Storage Disease
2013 |
First Faculty of Medicine
publication
Novel Mutations in the TAZ Gene in Patients with Barth Syndrome
2013 |
First Faculty of Medicine
publication
Novel Mutations in the Tyrosine Hydroxylase Gene in the First Czech Patient with Tyrosine Hydroxylase Deficiency
2012 |
First Faculty of Medicine
publication
Clinical picture of S-adenosylhomocysteine hydrolase deficiency resembles phosphomannomutase 2 deficiency
2012 |
First Faculty of Medicine
publication
Neonatal onset of mitochondrial disorders in 129 patients: clinical and laboratory characteristics and a new approach to diagnosis
2012 |
First Faculty of Medicine
publication
The importance of biogenic amines metabolities determination in cerebrospinal fluid by high performance liquid chromatography in the diagnostics of pediatric neurotransmitter disorders.
2011 |
First Faculty of Medicine
publication
Vascular presentation of cystathionine beta-synthase deficiency in adulthood
2011 |
First Faculty of Medicine
publication
Two Patients with Clinically Distinct Manifestation of Pyruvate Dehydrogenase Deficiency Due to Mutations in PDHA1 Gene
2011 |
First Faculty of Medicine
publication
Myoclonic Epilepsy and Deafness in Siblings with the 7512T>C Mutation in the Mitochondrial Encoded tRNA(Ser(UCN)) Gene - Case Reports
2010 |
Faculty of Science, Faculty of Physical Education and Sport, First Faculty of Medicine, Faculty of Medicine in Hradec Králové
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