Alzbeta Vondrackova

Prague, PR 12808, Czech Republic

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 11 publications

Pierpont syndrome due to mutation c.1337A>G in TBL1XR1 gene.

Pierpont syndrome due to mutation c.1337A>G in TBL1XR1 gene.

Journal: Clinical dysmorphology

Published: February 15, 2022

The Phenotypic Spectrum of 47 Czech Patients with Single, Large-Scale Mitochondrial DNA Deletions.

The Phenotypic Spectrum of 47 Czech Patients with Single, Large-Scale Mitochondrial DNA Deletions.

Journal: Brain sciences

Published: September 15, 2020

Severe phenotype of ATP6AP1-CDG in two siblings with a novel mutation leading to a differential tissue-specific ATP6AP1 protein pattern, cellular oxidative stress and hepatic copper accumulation.

Severe phenotype of ATP6AP1-CDG in two siblings with a novel mutation leading to a differential tissue-specific ATP6AP1 protein pattern, cellular oxidative stress and hepatic copper accumulation.

Journal: Journal of inherited metabolic disease

Published: January 07, 2020

POLR3B-associated leukodystrophy: clinical, neuroimaging and molecular-genetic analyses in four patients: clinical heterogeneity and novel mutations in POLR3B gene.

POLR3B-associated leukodystrophy: clinical, neuroimaging and molecular-genetic analyses in four patients: clinical heterogeneity and novel mutations in POLR3B gene.

Journal: Neurologia i neurochirurgia polska

Published: December 19, 2018

Sideroblastic anemia associated with multisystem mitochondrial disorders.

Sideroblastic anemia associated with multisystem mitochondrial disorders.

Journal: Pediatric blood & cancer

Published: August 10, 2018

Thymidine kinase 2 and alanyl-tRNA synthetase 2 deficiencies cause lethal mitochondrial cardiomyopathy: case reports and review of the literature.

Thymidine kinase 2 and alanyl-tRNA synthetase 2 deficiencies cause lethal mitochondrial cardiomyopathy: case reports and review of the literature.

Journal: Cardiology in the young

Published: November 15, 2016

High-resolution melting analysis for identifying sequence variations in nuclear genes for assembly factors and structural subunits of cytochrome c oxidase.

High-resolution melting analysis for identifying sequence variations in nuclear genes for assembly factors and structural subunits of cytochrome c oxidase.

Journal: Methods in molecular biology (Clifton, N.J.)

Published: January 30, 2015

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

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

Journal: Neuro endocrinology letters

Published: January 13, 2014

Novel mutations in the TAZ gene in patients with Barth syndrome.

Novel mutations in the TAZ gene in patients with Barth syndrome.

Journal: Prague medical report

Published: October 08, 2013

Large copy number variations in combination with point mutations in the TYMP and SCO2 genes found in two patients with mitochondrial disorders.

Large copy number variations in combination with point mutations in the TYMP and SCO2 genes found in two patients with mitochondrial disorders.

Journal: European journal of human genetics : EJHG

Published: December 17, 2012

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

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

Journal: Journal of human genetics

Published: May 18, 2012

Showing 1-11 of 11

Last Updated: 09/26/2026