Katarina Brennerova

Bratislava, BL, Slovakia

Last Updated: 09/26/2026

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Found 19 publications

Milder Form of Vici Syndrome Due to Novel Missense Variant in Epg5 Gene Affecting Splicing: A Case Report.

Milder Form of Vici Syndrome Due to Novel Missense Variant in Epg5 Gene Affecting Splicing: A Case Report.

Journal: Endocrine regulations

Published: July 06, 2026

Cerebrotendinous xanthomatosis in Slovak patients - experience with clinical manifestations and diagnostic approaches.

Cerebrotendinous xanthomatosis in Slovak patients - experience with clinical manifestations and diagnostic approaches.

Journal: Neurogenetics

Published: January 20, 2026

Outlook on ACADSB variants shaping metabolomic patterns and clinical outcomes - experience from a Central European country.

Outlook on ACADSB variants shaping metabolomic patterns and clinical outcomes - experience from a Central European country.

Journal: Clinical biochemistry

Published: December 17, 2025

Late-onset epi-cblC methylmalonic aciduria with tissue-variable MMACHC promoter methylation due to a stop retained PRDX1 variant.

Late-onset epi-cblC methylmalonic aciduria with tissue-variable MMACHC promoter methylation due to a stop retained PRDX1 variant.

Journal: Clinical epigenetics

Published: August 15, 2025

Comprehensive metabolomic/lipidomic characterization of patients with mitochondrial ATP synthase, short-chain acyl-CoA dehydrogenase and combined variant deficiencies.

Comprehensive metabolomic/lipidomic characterization of patients with mitochondrial ATP synthase, short-chain acyl-CoA dehydrogenase and combined variant deficiencies.

Journal: Heliyon

Published: April 22, 2024

N-Glycoprofiling of SLC35A2-CDG: Patient with a Novel Hemizygous Variant.

N-Glycoprofiling of SLC35A2-CDG: Patient with a Novel Hemizygous Variant.

Journal: Biomedicines

Published: December 16, 2022

ATAD3A-related pontocerebellar hypoplasia: new patients and insights into phenotypic variability.

ATAD3A-related pontocerebellar hypoplasia: new patients and insights into phenotypic variability.

Journal: Orphanet journal of rare diseases

Published: December 02, 2022

Effect of Ornithine Transcarbamylase (OTC) Deficiency on Pregnancy and Puerperium.

Effect of Ornithine Transcarbamylase (OTC) Deficiency on Pregnancy and Puerperium.

Journal: Diagnostics (Basel, Switzerland)

Published: January 05, 2022

Genetic testing is necessary for correct diagnosis and treatment in patients with isolated methylmalonic aciduria: a case report.

Genetic testing is necessary for correct diagnosis and treatment in patients with isolated methylmalonic aciduria: a case report.

Journal: BMC pediatrics

Published: August 03, 2021

Ophthalmological finding in a patient with lowe syndrome.

Ophthalmological finding in a patient with lowe syndrome.

Journal: Ceska a slovenska oftalmologie : casopis Ceske oftalmologicke spolecnosti a Slovenske oftalmologicke spolecnosti

Published: January 18, 2019

Mutations in SURF1 are important genetic causes of Leigh syndrome in Slovak patients.

Mutations in SURF1 are important genetic causes of Leigh syndrome in Slovak patients.

Journal: Endocrine regulations

Published: May 02, 2018

Neonatal hypoglycemia, early-onset diabetes and hypopituitarism due to the mutation in EIF2S3 gene causing MEHMO syndrome.

Neonatal hypoglycemia, early-onset diabetes and hypopituitarism due to the mutation in EIF2S3 gene causing MEHMO syndrome.

Journal: Physiological research

Published: January 06, 2018

Showing 1-12 of 19

Last Updated: 09/26/2026