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monogenic diabetes
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MUDr. Petra Paterová
External person at Faculty of Medicine in Pilsen
20 publications
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publication
First 2 cases with thiamine-responsive megaloblastic anemia in the Czech Republic, a rare form of monogenic diabetes mellitus: a novel mutation in the thiamine transporter SLC19A2 gene-intron 1 mutation c.204+2T>G
2017 |
Faculty of Medicine in Pilsen
publication
Introduction of continuous glucose monitoring (CGM) is a key factor in decreasing HbA1c in war refugee children with type 1 diabetes
2024 |
First Faculty of Medicine, Second Faculty of Medicine, Central Library of Charles University, Third Faculty of Medicine
publication
Pediatric Cushing's disease: Case reports and retrospective review
2023 |
First Faculty of Medicine, Faculty of Medicine in Pilsen
publication
Overweight and obesity in children and adolescents with endocrine disorders
2023 |
Faculty of Medicine in Pilsen
publication
Multiple endocrine neoplasia in childhood
2023 |
Faculty of Medicine in Pilsen
publication
Cystic ovarian teratoma as a novel tumor and growth hormone deficiency as a new condition presenting in Multiple Endocrine Neoplasia type 2B: Case reports and review of the literature
2022 |
Faculty of Medicine in Pilsen, Second Faculty of Medicine
publication
Endocrine causes of obesity in childhood and adolescence
2022 |
Faculty of Medicine in Pilsen
publication
Growth disorder in 11-year-old girl with diabetes
2020 |
Faculty of Medicine in Pilsen
publication
Late diagnosis of complete androgen insensitivity syndrome and transmission/carriers of the condition in a family with mutation c.2495G. T p.(Arg832Leu) in exon 7 of the androgen receptor gene: genetic, clinical and ethical aspects
2019 |
Faculty of Medicine in Pilsen, Second Faculty of Medicine
publication
New genetic causes of primary adrenal insufficiency
2018 |
Faculty of Medicine in Pilsen
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