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List of works by Tomáš Honzík

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Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia

scientific article
TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy

scientific article
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype

scientific article published on 15 April 2015
DCDC2 mutations cause a renal-hepatic ciliopathy by disrupting Wnt signaling

scientific article
Clinical Effect And Safety Profile of Recombinant Human Lysosomal Acid Lipase in Patients With Cholesteryl Ester Storage Disease

scientific article published on March 28, 2013
Mutation of Nogo-B receptor, a subunit of cis-prenyltransferase, causes a congenital disorder of glycosylation

scientific article
Clinical presentation and metabolic consequences in 40 breastfed infants with nutritional vitamin B12 deficiency--what have we learned?

scientific article
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
Mitochondrial DNA content and expression of genes involved in mtDNA transcription, regulation and maintenance during human fetal development

scientific article published on 20 January 2010
Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation

scientific article published in April 2010
Sebelipase alfa over 52 weeks reduces serum transaminases, liver volume and improves serum lipids in patients with lysosomal acid lipase deficiency

scientific article
Lethal fetal and early neonatal presentation of adenylosuccinate lyase deficiency: observation of 6 patients in 4 families

scientific article published on January 2007
TMEM70 deficiency: long-term outcome of 48 patients

scientific article published on 18 October 2014
Defining the Phenotype and Assessing Severity in Phosphoglucomutase-1 Deficiency

scientific article published on 17 May 2016
Clinical picture of S-adenosylhomocysteine hydrolase deficiency resembles phosphomannomutase 2 deficiency.

scientific article
The impact of mitochondrial tRNA mutations on the amount of ATP synthase differs in the brain compared to other tissues

Vascular presentation of cystathionine beta-synthase deficiency in adulthood.

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

scientific article published on 14 November 2016
Glycogen storage disease-like phenotype with central nervous system involvement in a PGM1-CDG patient

scientific article published on January 2014
Development of a human mitochondrial oligonucleotide microarray (h-MitoArray) and gene expression analysis of fibroblast cell lines from 13 patients with isolated F1Fo ATP synthase deficiency.

scientific article
Novel mutations in the TAZ gene in patients with Barth syndrome

scientific article published in January 2013
The phenotypic spectrum of fifty Czech m.3243A>G carriers.

scientific article published on 6 June 2016
Recessive ITPA mutations cause an early infantile encephalopathy

scientific article published on 29 July 2015
The International Working Group on Neurotransmitter related Disorders (iNTD): A worldwide research project focused on primary and secondary neurotransmitter disorders

scientific article (publication date: December 2016)
Elevated CSF-lactate is a reliable marker of mitochondrial disorders in children even after brief seizures.

scientific article published on 12 November 2010
The developmental changes in mitochondrial DNA content per cell in human cord blood leukocytes during gestation

scientific article published on 30 November 2007
Activities of respiratory chain complexes and pyruvate dehydrogenase in isolated muscle mitochondria in premature neonates.

scientific article published on 14 August 2007
A new case of ALG8 deficiency (CDG Ih).

scientific article published on 18 August 2009
Muscular dystrophies and myopathies: the spectrum of mutated genes in the Czech Republic.

scientific article published on 22 July 2016
RFT1-CDG in adult siblings with novel mutations

scientific article published on 13 October 2012
NovelFBN1gene mutation and maternal germinal mosaicism as the cause of neonatal form of Marfan syndrome

article
Different laboratory and muscle biopsy findings in a family with an m.8851T>C mutation in the mitochondrial MTATP6 gene

scientific article published on 13 November 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
Mosaic tissue distribution of the tandem duplication of LAMP2 exons 4 and 5 demonstrates the limits of Danon disease cellular and molecular diagnostics.

scientific article published on 29 May 2013
Lipoprotein lipase deficiency: clinical, biochemical and molecular characteristics in three patients with novel mutations in the LPL gene

scientific article published on January 2014
Unique presentation of LHON/MELAS overlap syndrome caused by m.13046T>C in MTND5.

scientific article published on 19 February 2016
Clinical manifestation of mitochondrial diseases

scientific article published on January 2015
Clinical, biochemical and molecular characteristics in 11 Czech children with tyrosinemia type I

scientific article published on January 2010
Polarographic evaluation of mitochondrial enzymes activity in isolated mitochondria and in permeabilized human muscle cells with inherited mitochondrial defects

scientific article published in January 2003
Erratum to: TMEM70 deficiency: long-term outcome of 48 patients

scientific article published on 01 May 2015
Carnitine concentrations in term and preterm newborns at birth and during the first days of life

scientific article published in January 2005
Hypertrophic cardiomyopathy due to the mitochondrial DNA mutation m.3303C>T diagnosed in an adult male

scientific article published on 01 January 2012
OPA1 analysis in an international series of probands with bilateral optic atrophy

scientific article
Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype

scientific article published on 01 November 2015
Prolonged impairment of polymorphonuclear cells functions in one infant with transient zinc deficiency: a case report.

scientific article published in January 2008
Isoelectric Focusing of Serum Apolipoprotein C-III as a Sensitive Screening Method for the Detection of O-glycosylation Disturbances

scientific article published on 01 January 2015
Activity of the liver enzyme ornithine carbamoyltransferase (OTC) in blood: LC-MS/MS assay for non-invasive diagnosis of ornithine carbamoyltransferase deficiency

scientific article published on 01 July 2017
Two patients with clinically distinct manifestation of pyruvate dehydrogenase deficiency due to mutations in PDHA1 gene.

scientific article
Psychiatric disturbances in five patients with MELAS syndrome

scientific article published on 01 September 2014
Specific properties of heavy fraction of mitochondria from human-term placenta - glycerophosphate-dependent hydrogen peroxide production.

scientific article published on 9 June 2005

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