Lista de obras - Tomáš Honzík - Dominio Público Uruguay

A new case of ALG8 deficiency (CDG Ih).

artículo científico publicado en 2009

Activities of respiratory chain complexes and pyruvate dehydrogenase in isolated muscle mitochondria in premature neonates.

artículo científico publicado en 2007

Activity of the liver enzyme ornithine carbamoyltransferase (OTC) in blood: LC-MS/MS assay for non-invasive diagnosis of ornithine carbamoyltransferase deficiency

artículo científico publicado en 2017

An eosinophilic papulopustular rash in a baby

scientific article published on 01 July 2020

Analysis of Mitochondrial Network Morphology in Cultured Myoblasts from Patients with Mitochondrial Disorders

artículo científico publicado en 2015

Carnitine concentrations in term and preterm newborns at birth and during the first days of life

artículo científico publicado en 2005

Clinical manifestation of mitochondrial diseases

artículo científico publicado en 2015

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

artículo científico publicado en 2012

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

artículo científico publicado en 2010

Clinical, biochemical and molecular characteristics in 11 Czech children with tyrosinemia type I

artículo científico publicado en 2010

DCDC2 mutations cause a renal-hepatic ciliopathy by disrupting Wnt signaling

artículo científico publicado en 2015

Defining the Phenotype and Assessing Severity in Phosphoglucomutase-1 Deficiency

artículo científico publicado en 2016

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. ⬇️

artículo científico publicado en 2008

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

artículo científico publicado en 2012

Elevated CSF-lactate is a reliable marker of mitochondrial disorders in children even after brief seizures.

artículo científico publicado en 2010

Erratum to: TMEM70 deficiency: long-term outcome of 48 patients

scientific article published on 01 May 2015

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

artículo científico publicado en 2015

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

artículo científico publicado en 2014

Hyperammonemic crisis in a child with ATP synthase deficiency caused by mtDNA mutation m.8851T>C

artículo científico publicado en 2014

Hypertrophic cardiomyopathy due to the mitochondrial DNA mutation m.3303C>T diagnosed in an adult male

scientific article published on 01 January 2012

Isoelectric Focusing of Serum Apolipoprotein C-III as a Sensitive Screening Method for the Detection of O-glycosylation Disturbances

artículo científico publicado en 2015

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

artículo científico publicado en 2013

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

artículo científico publicado en 2007

Lipoprotein lipase deficiency: clinical, biochemical and molecular characteristics in three patients with novel mutations in the LPL gene

artículo científico publicado en 2014

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

artículo científico publicado en 2010

Mitochondrial DNA haplogroups in the Czech population compared to other European countries.

artículo científico publicado en 2008

Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation

artículo científico publicado en 2010

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)

artículo científico publicado en 2006

Mosaic tissue distribution of the tandem duplication of LAMP2 exons 4 and 5 demonstrates the limits of Danon disease cellular and molecular diagnostics.

artículo científico publicado en 2013

Muscular dystrophies and myopathies: the spectrum of mutated genes in the Czech Republic.

artículo científico publicado en 2016

Mutation of Nogo-B receptor, a subunit of cis-prenyltransferase, causes a congenital disorder of glycosylation

artículo científico publicado en 2014

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

artículo científico publicado en 2012

Non-invasive screening of cytochrome c oxidase deficiency in children using a dipstick immunocapture assay

artículo científico publicado en 2014

Novel mutations in the TAZ gene in patients with Barth syndrome

artículo científico publicado en 2013

Novel mutations in the tyrosine hydroxylase gene in the first Czech patient with tyrosine hydroxylase deficiency

artículo científico publicado en 2012

NovelFBN1gene mutation and maternal germinal mosaicism as the cause of neonatal form of Marfan syndrome

article

OPA1 analysis in an international series of probands with bilateral optic atrophy

artículo científico publicado en 2016

Polarographic evaluation of mitochondrial enzymes activity in isolated mitochondria and in permeabilized human muscle cells with inherited mitochondrial defects

artículo científico publicado en 2003

Prolonged impairment of polymorphonuclear cells functions in one infant with transient zinc deficiency: a case report.

artículo científico publicado en 2008

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

artículo científico publicado en 2014

RFT1-CDG in adult siblings with novel mutations

artículo científico publicado en 2012

Recessive ITPA mutations cause an early infantile encephalopathy

artículo científico publicado en 2015

Response to the ‘letter to the Editor’

item in European Journal of Paediatric Neurology (July 2011)

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

artículo científico publicado en 2014

Specific properties of heavy fraction of mitochondria from human-term placenta - glycerophosphate-dependent hydrogen peroxide production.

artículo científico publicado en 2005

TMEM70 deficiency: long-term outcome of 48 patients

artículo científico publicado en 2014

TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy

artículo científico publicado en 2008

The International Working Group on Neurotransmitter related Disorders (iNTD): A worldwide research project focused on primary and secondary neurotransmitter disorders

artículo científico publicado en 2016

The developmental changes in mitochondrial DNA content per cell in human cord blood leukocytes during gestation

artículo científico publicado en 2007

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

The phenotypic spectrum of fifty Czech m.3243A>G carriers.

artículo científico publicado en 2016

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

artículo científico publicado en 2015

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

artículo científico publicado en 2016

Two patients with clinically distinct manifestation of pyruvate dehydrogenase deficiency due to mutations in PDHA1 gene.

artículo científico publicado en 2011

Unique presentation of LHON/MELAS overlap syndrome caused by m.13046T>C in MTND5.

artículo científico publicado en 2016

Vascular presentation of cystathionine beta-synthase deficiency in adulthood.

artículo científico publicado en 2010

[Congenital disorder of type Ia protein glycosylation: clinical, biochemical and molecular characteristics in 2 siblings with cerebellar hypoplasia]

artículo científico publicado en 2003

[Psychiatric disturbances in five patients with MELAS syndrome]

artículo científico publicado en 2014

Lista de obras de Tomáš Honzík

A new case of ALG8 deficiency (CDG Ih).

Activities of respiratory chain complexes and pyruvate dehydrogenase in isolated muscle mitochondria in premature neonates.

Activity of the liver enzyme ornithine carbamoyltransferase (OTC) in blood: LC-MS/MS assay for non-invasive diagnosis of ornithine carbamoyltransferase deficiency

An eosinophilic papulopustular rash in a baby

Analysis of Mitochondrial Network Morphology in Cultured Myoblasts from Patients with Mitochondrial Disorders

Carnitine concentrations in term and preterm newborns at birth and during the first days of life

Clinical manifestation of mitochondrial diseases

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

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

Clinical, biochemical and molecular characteristics in 11 Czech children with tyrosinemia type I

DCDC2 mutations cause a renal-hepatic ciliopathy by disrupting Wnt signaling

Defining the Phenotype and Assessing Severity in Phosphoglucomutase-1 Deficiency

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. ⬇️

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

Elevated CSF-lactate is a reliable marker of mitochondrial disorders in children even after brief seizures.

Erratum to: TMEM70 deficiency: long-term outcome of 48 patients

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

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

Hyperammonemic crisis in a child with ATP synthase deficiency caused by mtDNA mutation m.8851T>C

Hypertrophic cardiomyopathy due to the mitochondrial DNA mutation m.3303C>T diagnosed in an adult male

Isoelectric Focusing of Serum Apolipoprotein C-III as a Sensitive Screening Method for the Detection of O-glycosylation Disturbances

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

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

Lipoprotein lipase deficiency: clinical, biochemical and molecular characteristics in three patients with novel mutations in the LPL gene

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

Mitochondrial DNA haplogroups in the Czech population compared to other European countries.

Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)

Mosaic tissue distribution of the tandem duplication of LAMP2 exons 4 and 5 demonstrates the limits of Danon disease cellular and molecular diagnostics.

Muscular dystrophies and myopathies: the spectrum of mutated genes in the Czech Republic.

Mutation of Nogo-B receptor, a subunit of cis-prenyltransferase, causes a congenital disorder of glycosylation

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

Non-invasive screening of cytochrome c oxidase deficiency in children using a dipstick immunocapture assay

Novel mutations in the TAZ gene in patients with Barth syndrome

Novel mutations in the tyrosine hydroxylase gene in the first Czech patient with tyrosine hydroxylase deficiency

NovelFBN1gene mutation and maternal germinal mosaicism as the cause of neonatal form of Marfan syndrome

OPA1 analysis in an international series of probands with bilateral optic atrophy

Polarographic evaluation of mitochondrial enzymes activity in isolated mitochondria and in permeabilized human muscle cells with inherited mitochondrial defects

Prolonged impairment of polymorphonuclear cells functions in one infant with transient zinc deficiency: a case report.

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

RFT1-CDG in adult siblings with novel mutations

Recessive ITPA mutations cause an early infantile encephalopathy

Response to the ‘letter to the Editor’

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

Specific properties of heavy fraction of mitochondria from human-term placenta - glycerophosphate-dependent hydrogen peroxide production.

TMEM70 deficiency: long-term outcome of 48 patients

TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy

The International Working Group on Neurotransmitter related Disorders (iNTD): A worldwide research project focused on primary and secondary neurotransmitter disorders

The developmental changes in mitochondrial DNA content per cell in human cord blood leukocytes during gestation

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

The phenotypic spectrum of fifty Czech m.3243A>G carriers.

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

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

Two patients with clinically distinct manifestation of pyruvate dehydrogenase deficiency due to mutations in PDHA1 gene.

Unique presentation of LHON/MELAS overlap syndrome caused by m.13046T>C in MTND5.

Vascular presentation of cystathionine beta-synthase deficiency in adulthood.

[Congenital disorder of type Ia protein glycosylation: clinical, biochemical and molecular characteristics in 2 siblings with cerebellar hypoplasia]

[Psychiatric disturbances in five patients with MELAS syndrome]