Concepedia

Alžběta Vondráčková

AV

7

Publications

154

Citations

7

H-Index

2012

Active since

Affiliations

General University Hospital in Prague(Current)

Charles University

University Hospital in Motol

Alžběta Vondráčková is an author at General University Hospital in Prague specializing in molecular genetics, molecular biology, and medicine.

ORCID

Top concepts

Publications per year

2012–2020

7

Publications

7

Glycogen storage disease-like phenotype with central nervous system involvement in a PGM1-CDG patient.

Nina Ondrušková, Tomáš Honzík, Alžběta Vondráčková et al. · PubMed · 2014 · 35 citations

Sideroblastic anemia associated with multisystem mitochondrial disorders

Markéta Tesařová, Alžběta Vondráčková, Hana Štufková et al. · Pediatric Blood & Cancer · 2018 · 25 citations

Severe phenotype of <scp>ATP6AP1‐CDG</scp> in two siblings with a novel mutation leading to a differential tissue‐specific <scp>ATP6AP1</scp> protein pattern, cellular oxidative stress and hepatic copper accumulation

Nina Ondrušková, Tomáš Honzík, Alžběta Vondráčková et al. · Journal of Inherited Metabolic Disease · 2020 · 24 citations · Full text

High-resolution melting analysis of 15 genes in 60 patients with cytochrome-c oxidase deficiency

Alžběta Vondráčková, Kateřina Veselá, Hana Hansíková et al. · Journal of Human Genetics · 2012 · 19 citations · Full text

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Novel Mutations in the TAZ Gene in Patients with Barth Syndrome

Stella Mazurová, Markéta Tesařová, Martin Magner et al. · Prague Medical Report · 2013 · 18 citations · Full text

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