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Newborn screening
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Class
Person
Publication
Programmes
prof. MUDr. Jiří Zeman DrSc.
Academic staff at First Faculty of Medicine
5 classes
661 publications
Classes
class
Paediatrics for Students of Stomatology
+1
B00137 |
First Faculty of Medicine
class
Intesive Care in Paediatrics 1
B01566 |
First Faculty of Medicine
class
Intensive care in paediatrics 2
B01579 |
First Faculty of Medicine
class
Intensive care in paediatrics and neonatology
B02961 |
First Faculty of Medicine
Publications
publication
Hepatocellular carcinoma in an infant with tyrosinemia type 1
2023 |
First Faculty of Medicine, Second Faculty of Medicine
publication
Inherited disorders of carbohydrate metabolism
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
Autosomal dominant Zellweger spectrum disorder caused by de novo variants in PEX14 gene
2023 |
First Faculty of Medicine
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
publication
Pierpont syndrome due to mutation c.1337A > G in TBL1XR1 gene
2022 |
First Faculty of Medicine
publication
Mitochondrial organization and structure are compromised in fibroblasts from patients with Huntington's disease
2022 |
First Faculty of Medicine
publication
A Novel MTTK Gene Variant m.8315A>C as a Cause of MERRF Syndrome
2022 |
First Faculty of Medicine
publication
Inborn errors of amino acid, organic acid metabolism and disorders of the urea cycle
2022 |
First Faculty of Medicine
publication
Clinical Nutrition
2021 |
First Faculty of Medicine, Faculty of Physical Education and Sport, Faculty of Medicine in Hradec Králové, Second Faculty of Medicine, Faculty of Medicine in Pilsen, Third Faculty of Medicine, Central Library of Charles University, Faculty of Pharmacy in Hradec Králové
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