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List of works by Kateřina Veselá

Clinical picture of S-adenosylhomocysteine hydrolase deficiency resembles phosphomannomutase 2 deficiency.

scientific article

Clinical, biochemical and molecular analyses of six patients with isolated cytochrome c oxidase deficiency due to mutations in the SCO2 gene.

scientific article published in October 2004

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

scientific article published in January 2015

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

scientific article published on 17 May 2012

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

scientific article published on 10 July 2013

Large heterozygous deletions on 22q13.33 in combination with TYMP or SCO2 point mutations in two patients with mitochondrial disorders

article published in 2012

Neonatal onset of mitochondrial disorders in 129 patients: clinical and laboratory characteristics and a new approach to diagnosis

scientific article published on 10 January 2012

RFT1-CDG in adult siblings with novel mutations

scientific article published on 13 October 2012

Retrospective, multicentric study of 180 children with cytochrome C oxidase deficiency.

scientific article published on 2 December 2005

SURF1 missense mutations promote a mild Leigh phenotype.

scientific article published on August 2009

Structural analysis of tissues affected by cytochrome C oxidase deficiency due to mutations in the SCO2 gene

scientific article published in January 2008

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