Tomas Honzik

Tomas Honzik

UNVERIFIED PROFILE

Are you Tomas Honzik?   Register this Author

Register author
Tomas Honzik

Tomas Honzik

Publications by authors named "Tomas Honzik"

Are you Tomas Honzik?   Register this Author

54Publications

2845Reads

39Profile Views

POLR3B-associated leukodystrophy: clinical, neuroimaging and molecular-genetic analyses in four patients: clinical heterogeneity and novel mutations in POLR3B gene.

Neurol Neurochir Pol 2019 2;53(5):369-376. Epub 2019 Oct 2.

Clinic of Pediatric and Adolescent Medicine, 1st Faculty of Medicine, Charles University and General University Hospital in Prague, Ke Karlovu 2, 12109 Prague, Czech Republic.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.5603/PJNNS.a2019.0042DOI Listing
November 2019

The Metabolic Map into the Pathomechanism and Treatment of PGM1-CDG.

Am J Hum Genet 2019 May 11;104(5):835-846. Epub 2019 Apr 11.

Metabolomics Expertise Center, Center for Cancer Biology, VIB Center for Cancer Biology, 3000 Leuven, Belgium; Metabolomics Expertise Center, Department of Oncology, Katholieke Universiteit Leuven, 3000 Leuven, Belgium. Electronic address:

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S00029297193009
Publisher Site
http://dx.doi.org/10.1016/j.ajhg.2019.03.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6506806PMC
May 2019

Sideroblastic anemia associated with multisystem mitochondrial disorders.

Pediatr Blood Cancer 2019 04 26;66(4):e27591. Epub 2018 Dec 26.

Department of Paediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/pbc.27591
Publisher Site
http://dx.doi.org/10.1002/pbc.27591DOI Listing
April 2019

Peripapillary microcirculation in Leber hereditary optic neuropathy.

Acta Ophthalmol 2019 Feb 26;97(1):e71-e76. Epub 2018 Sep 26.

Department of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1111/aos.13817
Publisher Site
http://dx.doi.org/10.1111/aos.13817DOI Listing
February 2019

Mitochondrial neurogastrointestinal encephalomyopathy imitating Crohn's disease: a rare cause of malnutrition.

J Gastrointestin Liver Dis 2018 Sep;27(3):321-325

Department of Gastroenterology, University Hospital Bohunice, Brno; Department of Surgery, University Hospital Bohunice, Brno, Czech

View Article

Download full-text PDF

Source
http://dx.doi.org/10.15403/jgld.2014.1121.273.kucDOI Listing
September 2018

Variable X-chromosome inactivation and enlargement of pericentral glutamine synthetase zones in the liver of heterozygous females with OTC deficiency.

Virchows Arch 2018 Jun 6;472(6):1029-1039. Epub 2018 Apr 6.

Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Ke Karlovu 2, 128 08, Prague 2, Czech Republic.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00428-018-2345-xDOI Listing
June 2018

Aberrant apolipoprotein C-III glycosylation in glycogen storage disease type III and IX.

Metabolism 2018 05 2;82:135-141. Epub 2018 Feb 2.

Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Ke Karlovu 2, 12808 Prague 2, Czech Republic. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.metabol.2018.01.004DOI Listing
May 2018

Revisiting mitochondrial diagnostic criteria in the new era of genomics.

Genet Med 2018 04 26;20(4):444-451. Epub 2017 Oct 26.

Department of Paediatrics and Metabolic Center, University Hospitals Leuven, Department of Development and Regeneration, KU Leuven, Leuven, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/gim.2017.125DOI Listing
April 2018

Hereditary Multiple Exostoses: Clinical, Molecular and Radiologic Survey in 9 Families.

Prague Med Rep 2017;118(2-3):87-94

Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.

View Article

Download full-text PDF

Source
https://pmr.lf1.cuni.cz/118/2/0087/
Publisher Site
http://dx.doi.org/10.14712/23362936.2017.8DOI Listing
February 2018

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

Cardiol Young 2017 Jul 14;27(5):936-944. Epub 2016 Nov 14.

1Department of Paediatrics and Adolescent Medicine, First Medical Faculty,Charles University in Prague and General University Hospital in Prague,Czech Republic.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1017/S1047951116001876DOI Listing
July 2017

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

Acta Ophthalmol 2017 Jun 17;95(4):363-369. Epub 2016 Nov 17.

Cardiff Eye Unit, University Hospital of Wales, Cardiff, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/aos.13285DOI Listing
June 2017

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

Ophthalmic Genet 2016 12 19;37(4):419-423. Epub 2016 Feb 19.

a Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine , Charles University in Prague and General University Hospital in Prague , Czech Republic.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3109/13816810.2015.1092045DOI Listing
December 2016

Defining the Phenotype and Assessing Severity in Phosphoglucomutase-1 Deficiency.

J Pediatr 2016 08 17;175:130-136.e8. Epub 2016 May 17.

Hayward Genetics Center, Tulane University School of Medicine, New Orleans, LA; Department of Pediatrics, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jpeds.2016.04.021DOI Listing
August 2016

Clinical manifestation of mitochondrial diseases.

Dev Period Med 2015 Oct-Dec;19(4):441-9

Department of Paediatrics and Adolescent Medicine, Ke Karlovu 2, 128 08 Praha 2, Czech Republic, tel. +420-224967733, fax +420-224967113, e-mail: jzem

View Article

Download full-text PDF

Source
May 2016

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

J Inherit Metab Dis 2015 Nov;38(6):1157-8

Hospital San Joan de Deu, Servicio de Neurologia and CIBERER, ISCIII, Barcelona, Spain.

View Article

Download full-text PDF

Source
http://link.springer.com/content/pdf/10.1007%2Fs10545-015-98
Web Search
http://link.springer.com/10.1007/s10545-015-9868-y
Publisher Site
http://dx.doi.org/10.1007/s10545-015-9868-yDOI Listing
November 2015

Recessive ITPA mutations cause an early infantile encephalopathy.

Ann Neurol 2015 Oct 21;78(4):649-58. Epub 2015 Aug 21.

Department of Child Neurology, VU University Medical Center, Amsterdam, the Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ana.24496DOI Listing
October 2015

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

Prague Med Rep 2015 ;116(2):73-86

Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.14712/23362936.2015.48DOI Listing
August 2015

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

Mol Genet Metab Rep 2015 Mar 18;2:46. Epub 2014 Dec 18.

Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University in Prague.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgmr.2014.12.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5471158PMC
March 2015

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

Neuro Endocrinol Lett 2014 ;35(2):137-41

Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic.

View Article

Download full-text PDF

Source
September 2014

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

Cell Metab 2014 Sep 24;20(3):448-57. Epub 2014 Jul 24.

Department of Pharmacology and Vascular Biology and Therapeutics Program, Yale University School of Medicine, 10 Amistad Street, New Haven, CT 06520, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.cmet.2014.06.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4161961PMC
September 2014

Novel FBN1 gene mutation and maternal germinal mosaicism as the cause of neonatal form of Marfan syndrome.

Am J Med Genet A 2014 Jun 25;164A(6):1559-64. Epub 2014 Mar 25.

Institute of Biology and Medical Genetics, First Faculty of Medicine, Charles University in Prague and General University Hospital, Prague, Czech Republic.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.36480DOI Listing
June 2014

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

Eur J Hum Genet 2014 Mar 10;22(3):431-4. Epub 2013 Jul 10.

Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ejhg.2013.148DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3925276PMC
March 2014

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

J Inherit Metab Dis 2014 Jan 29;37(1):117-24. Epub 2013 May 29.

Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Ke Karlovu 2, 128 00, Prague 2, Czech Republic.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10545-013-9617-zDOI Listing
January 2014

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

Int Heart J 2012 ;53(6):383-7

2nd Department of Medicine, Department of Cardiovascular Medicine, General University Hospital in Prague, First Faculty of Medicine, Charles University in Prague, Prague, Czech Republic.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1536/ihj.53.383DOI Listing
February 2013

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

Mol Genet Metab 2013 Jan 13;108(1):102-5. Epub 2012 Nov 13.

Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Czech Republic.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2012.11.002DOI Listing
January 2013

RFT1-CDG in adult siblings with novel mutations.

Mol Genet Metab 2012 Dec 13;107(4):760-2. Epub 2012 Oct 13.

Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2012.10.002DOI Listing
December 2012

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

Mol Genet Metab 2012 Nov 23;107(3):611-3. Epub 2012 Aug 23.

First Faculty of Medicine, Institute of Inherited Metabolic Disorders, Charles University in Prague and General University Hospital in Prague, Czech Republic.

View Article

Download full-text PDF

Source
http://linkinghub.elsevier.com/retrieve/pii/S109671921200314
Publisher Site
http://dx.doi.org/10.1016/j.ymgme.2012.08.014DOI Listing
November 2012

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

J Inherit Metab Dis 2012 Sep 10;35(5):749-59. Epub 2012 Jan 10.

Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Ke Karlovu 2, 120 00, Prague 2, Czech Republic.

View Article

Download full-text PDF

Source
http://link.springer.com/content/pdf/10.1007/s10545-011-9440
Web Search
http://link.springer.com/10.1007/s10545-011-9440-3
Publisher Site
http://dx.doi.org/10.1007/s10545-011-9440-3DOI Listing
September 2012

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

Eur J Paediatr Neurol 2011 Mar 12;15(2):101-8. Epub 2010 Nov 12.

Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University in Prague, Czech Republic.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejpn.2010.10.001DOI Listing
March 2011

Vascular presentation of cystathionine beta-synthase deficiency in adulthood.

J Inherit Metab Dis 2011 Feb 22;34(1):33-7. Epub 2010 Jun 22.

Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University in Prague, Praha, Czech Republic.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10545-010-9146-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3026685PMC
February 2011

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

Cas Lek Cesk 2010 ;149(9):411-6

Univerzita Karlova v Praze, lékarská fakulta, Klinika detského a dorostového lékarství VFN.

View Article

Download full-text PDF

Source
December 2010

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

Eur J Paediatr Neurol 2010 Nov 20;14(6):488-95. Epub 2010 Jan 20.

Department of Paediatrics, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Czech Republic.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejpn.2009.12.003DOI Listing
November 2010

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

Arch Dis Child 2010 Apr;95(4):296-301

Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University in Prague, Ke Karlovu 2, 128 08 Prague 2, Czech Republic.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/adc.2009.168096DOI Listing
April 2010

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

Hum Biol 2008 Dec;80(6):669-74

Charles University, First Faculty of Medicine, Department of Pediatrics, Prague, Czech Republic.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3378/1534-6617-80.6.669DOI Listing
December 2008

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

Biochim Biophys Acta 2008 May 15;1782(5):317-25. Epub 2008 Feb 15.

Department of Pediatrics and Center of Applied Genomics, First Faculty of Medicine, Charles University in Prague, Ke Karlovu 2, Prague 2, 128 08, Czech Republic.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bbadis.2008.02.001DOI Listing
May 2008