Publications by authors named "K Brennerova"

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Comprehensive metabolomic/lipidomic characterization of patients with mitochondrial ATP synthase, short-chain acyl-CoA dehydrogenase and combined variant deficiencies.
Dana Dobešová, Matúš Prídavok, Radana Brumarová, Aleš Kvasnička, Barbora Piskláková

Heliyon· February 2025

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ATAD3A-related pontocerebellar hypoplasia: new patients and insights into phenotypic variability.
Martina Skopkova, Hana Stufkova, Vibhuti Rambani, Viktor Stranecky, Katarina Brennerova

Orphanet J Rare Dis· April 2023

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-Glycoprofiling of SLC35A2-CDG: Patient with a Novel Hemizygous Variant.
Rebeka Kodríková, Zuzana Pakanová, Maroš Krchňák, Mária Šedivá, Sergej Šesták

Biomedicines· February 2023

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Effect of Ornithine Transcarbamylase (OTC) Deficiency on Pregnancy and Puerperium.
Rastislav Sysák, Katarína Brennerová, Romana Krlín, Peter Štencl, Igor Rusňák

Diagnostics (Basel)· February 2022

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Genetic testing is necessary for correct diagnosis and treatment in patients with isolated methylmalonic aciduria: a case report.
Katarína Brennerová, Martina Škopková, Mária Ostrožlíková, Jana Šaligová, Juraj Staník

BMC Pediatr· December 2021

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