Jiri Zeman

Jiri Zeman

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Reply to Comment on: Sideroblastic anemia associated with multisystem mitochondrial disorders.

Pediatr Blood Cancer 2019 Dec 18;66(12):e28007. Epub 2019 Sep 18.

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

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http://dx.doi.org/10.1002/pbc.28007DOI Listing
December 2019

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.

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

Tubes for detection of cholinesterase inhibitors-Unique effects of Neusilin on the stability of butyrylcholinesterase-impregnated carriers.

Enzyme Microb Technol 2019 Sep 6;128:26-33. Epub 2019 May 6.

Institute of Macromolecular Chemistry, Czech Academy of Sciences, Prague, Czech Republic.

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http://dx.doi.org/10.1016/j.enzmictec.2019.05.002DOI Listing
September 2019

Activities of mitochondrial respiratory chain complexes in platelets of patients with Alzheimer's disease and depressive disorder.

Mitochondrion 2019 Sep 1;48:67-77. Epub 2019 Aug 1.

Department of Psychiatry, First Faculty of Medicine, Charles University and General University Hospital in Prague, Ke Karlovu 11, 120 00 Prague 2, Czech Republic. Electronic address:

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http://dx.doi.org/10.1016/j.mito.2019.07.013DOI Listing
September 2019

The relationship of mitochondrial dysfunction and the development of insulin resistance in Cushing's syndrome.

Diabetes Metab Syndr Obes 2019 19;12:1459-1471. Epub 2019 Aug 19.

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

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http://dx.doi.org/10.2147/DMSO.S209095DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6707348PMC
August 2019

Deterioration of mitochondrial bioenergetics and ultrastructure impairment in skeletal muscle of a transgenic minipig model in the early stages of Huntington's disease.

Dis Model Mech 2019 07 26;12(7). Epub 2019 Jul 26.

Laboratory for Study of Mitochondrial Disorders, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, 12108 Prague 2, Czech Republic

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http://dx.doi.org/10.1242/dmm.038737DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6679385PMC
July 2019

Modern methods in diagnostics and research of molecular bases of rare diseases.

Cas Lek Cesk Summer 2018;157(3):133-136

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April 2019

Short view on origins of paediatric health care in Prague.

Cas Lek Cesk Summer 2018;157(3):113-116

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April 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.

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

The Age Dependent Progression of Hajdu-Cheney Syndrome in Two Families.

Prague Med Rep 2018;119(4):156-164

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

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http://dx.doi.org/10.14712/23362936.2019.3DOI Listing
April 2019

Associations between breastfeeding rates and infant disease: A survey of 2338 Czech children.

Nutr Diet 2019 Apr 22. Epub 2019 Apr 22.

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

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https://onlinelibrary.wiley.com/doi/abs/10.1111/1747-0080.12
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http://dx.doi.org/10.1111/1747-0080.12532DOI Listing
April 2019

Late diagnosis of mucopolysaccharidosis type IVB and successful aortic valve replacement in a 60-year-old female patient.

Cardiovasc Pathol 2018 Jul - Aug;35:52-56. Epub 2018 Apr 12.

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

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http://dx.doi.org/10.1016/j.carpath.2018.04.001DOI Listing
December 2018

International working group identifies need for newborn screening for mucopolysaccharidosis type I but states that existing hurdles must be overcome.

Acta Paediatr 2018 12 23;107(12):2059-2065. Epub 2018 Oct 23.

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

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http://dx.doi.org/10.1111/apa.14587DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6282980PMC
December 2018

The effect of amorphous and crystal sodium warfarin and its content uniformity on bioequivalence of tablets.

Eur J Pharm Sci 2018 Dec 1;125:120-129. Epub 2018 Oct 1.

Department of Pharmaceutics, Faculty of Pharmacy, University of Veterinary and Pharmaceutical Sciences, Palackého 1946/1, Brno, Czech Republic.

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https://linkinghub.elsevier.com/retrieve/pii/S09280987183044
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http://dx.doi.org/10.1016/j.ejps.2018.09.022DOI Listing
December 2018

Loss of Mitochondrial AAA Proteases AFG3L2 and YME1L Impairs Mitochondrial Structure and Respiratory Chain Biogenesis.

Int J Mol Sci 2018 Dec 7;19(12). Epub 2018 Dec 7.

Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, 12808 Prague, Czech Republic.

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http://dx.doi.org/10.3390/ijms19123930DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6321463PMC
December 2018

Correction to: Impact of age at onset and newborn screening on outcome in organic acidurias.

J Inherit Metab Dis 2018 Jul;41(4):741-742

Department of General Pediatrics, Division of Neuropediatrics and Inherited Metabolic Diseases, University Children's Hospital, Heidelberg, Im Neuenheimer Feld 430, D-69120, Heidelberg, Germany.

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http://dx.doi.org/10.1007/s10545-017-0116-5DOI Listing
July 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.

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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:

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

Mitochondrial Metabolism in a Large-Animal Model of Huntington Disease: The Hunt for Biomarkers in the Spermatozoa of Presymptomatic Minipigs.

Neurodegener Dis 2017 21;17(4-5):213-226. Epub 2017 Jun 21.

Laboratory for Study of Mitochondrial Disorders, Department of Pediatrics and Adolescent Medicine, General University Hospital and First Faculty of Medicine, Charles University, Prague, Czech Republic.

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http://dx.doi.org/10.1159/000475467DOI Listing
April 2018

Alcohol and drug intoxications in adolescents admitted to paediatric wards in the Czech Republic: 5-year retrospective study 2006-2010.

Cent Eur J Public Health 2018 Mar;26(1):39-44

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

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http://dx.doi.org/10.21101/cejph.a4644DOI Listing
March 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.

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

The development of a butyrylcholinesterase porous pellet for innovative detection of cholinesterase inhibitors.

Eur J Pharm Sci 2017 Nov 13;109:548-555. Epub 2017 Sep 13.

Faculty of Environmental Technology, University of Chemistry and Technology, Technická 5, Prague, Czech Republic.

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http://dx.doi.org/10.1016/j.ejps.2017.09.015DOI Listing
November 2017

Mitochondrial Respiration in the Platelets of Patients with Alzheimer's Disease.

Curr Alzheimer Res 2016 ;13(8):930-41

Department of Psychiatry, First Faculty of Medicine, Charles University in Prague, Ke Karlovu 11, 120 00 Prague 2, Czech Republic..

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http://dx.doi.org/10.2174/1567205013666160314150856DOI Listing
October 2017

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.

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

Ultra-low-dose CT Imaging of the Thorax: Decreasing the Radiation Dose by One Order of Magnitude.

Indian J Pediatr 2016 Nov 9;83(12-13):1479-1481. Epub 2016 Jun 9.

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

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http://dx.doi.org/10.1007/s12098-016-2175-2DOI Listing
November 2016

Two novel mutations in seven Czech and Slovak kindreds with familial neurohypophyseal diabetes insipidus-benefit of genetic testing.

Eur J Pediatr 2016 Sep 18;175(9):1199-1207. Epub 2016 Aug 18.

2nd Department of Pediatrics, Faculty of Medicine, Comenius University in Bratislava and University Children's Hospital Bratislava, Limbová 1, 833 40, Bratislava, Slovakia.

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http://dx.doi.org/10.1007/s00431-016-2759-xDOI Listing
September 2016

MECP2 mutations in Czech patients with Rett syndrome and Rett-like phenotypes: novel mutations, genotype-phenotype correlations and validation of high-resolution melting analysis for mutation scanning.

J Hum Genet 2016 Jul 17;61(7):617-25. Epub 2016 Mar 17.

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

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http://dx.doi.org/10.1038/jhg.2016.19DOI Listing
July 2016

LACE1 interacts with p53 and mediates its mitochondrial translocation and apoptosis.

Oncotarget 2016 Jul;7(30):47687-47698

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

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http://dx.doi.org/10.18632/oncotarget.9959DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5216971PMC
July 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

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May 2016

Impact of age at onset and newborn screening on outcome in organic acidurias.

J Inherit Metab Dis 2016 05 21;39(3):341-353. Epub 2015 Dec 21.

Department of General Pediatrics, Division of Neuropediatrics and Inherited Metabolic Diseases, University Children's Hospital Heidelberg, Im Neuenheimer Feld 430, D-69120, Heidelberg, Germany.

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http://dx.doi.org/10.1007/s10545-015-9907-8DOI Listing
May 2016

Behavioural and emotional problems, intellectual impairment and health-related quality of life in patients with organic acidurias and urea cycle disorders.

J Inherit Metab Dis 2016 Mar 27;39(2):231-41. Epub 2015 Aug 27.

Centre for Paediatric and Adolescent Medicine, Division for Neuropaediatrics and Metabolic Medicine, Heidelberg University Hospital, Im Neuenheimer Feld 430, D-69120, Heidelberg, Germany.

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http://dx.doi.org/10.1007/s10545-015-9887-8DOI Listing
March 2016

The mammalian homologue of yeast Afg1 ATPase (lactation elevated 1) mediates degradation of nuclear-encoded complex IV subunits.

Biochem J 2016 Mar 12;473(6):797-804. Epub 2016 Jan 12.

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

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http://dx.doi.org/10.1042/BJ20151029DOI Listing
March 2016

Occipitocervical stabilization using bilateral laminar C2 screws in children with mucopolysaccharidosis IVA.

Eur Spine J 2015 Dec 21;24(12):2756-62. Epub 2015 Mar 21.

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

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http://link.springer.com/10.1007/s00586-015-3879-0
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http://dx.doi.org/10.1007/s00586-015-3879-0DOI Listing
December 2015

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.

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

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

Methods Mol Biol 2015 ;1264:351-67

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

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http://dx.doi.org/10.1007/978-1-4939-2257-4_31DOI 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.

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

Noninvasive diagnostics of mitochondrial disorders in isolated lymphocytes with high resolution respirometry.

BBA Clin 2014 Dec 1;2:62-71. Epub 2014 Oct 1.

Department of Bioenergetics, Institute of Physiology Academy of Sciences of the Czech Republic v.v.i., 142 20 Prague 4, Czech Republic.

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http://dx.doi.org/10.1016/j.bbacli.2014.09.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4633944PMC
December 2014

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.

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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:

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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.

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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.

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

Mitochondrial membrane assembly of TMEM70 protein.

Mitochondrion 2014 Mar 25;15:1-9. Epub 2014 Feb 25.

Institute of Physiology Academy of Sciences of the Czech Republic v.v.i., 14220 Prague, Czech Republic. Electronic address:

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http://dx.doi.org/10.1016/j.mito.2014.02.010DOI Listing
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.

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

Natural history of alpha mannosidosis a longitudinal study.

Orphanet J Rare Dis 2013 Jun 20;8:88. Epub 2013 Jun 20.

Center for Pediatric and Adolescent Medicine, University Medical Center, Langenbeckstraße 1, 55131 Mainz, Germany.

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http://dx.doi.org/10.1186/1750-1172-8-88DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3691585PMC
June 2013

Hyperphenylalaninemia in the Czech Republic: genotype-phenotype correlations and in silico analysis of novel missense mutations.

Clin Chim Acta 2013 Apr 26;419:1-10. Epub 2013 Jan 26.

Central European Institute of Technology, Masaryk University, Brno, Czech Republic.

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http://dx.doi.org/10.1016/j.cca.2013.01.006DOI Listing
April 2013

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.

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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.

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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.

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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.

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http://linkinghub.elsevier.com/retrieve/pii/S109671921200314
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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.

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

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

J Hum Genet 2012 Jul 17;57(7):442-8. Epub 2012 May 17.

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

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http://dx.doi.org/10.1038/jhg.2012.49DOI Listing
July 2012

YME1L controls the accumulation of respiratory chain subunits and is required for apoptotic resistance, cristae morphogenesis, and cell proliferation.

Mol Biol Cell 2012 Mar 19;23(6):1010-23. Epub 2012 Jan 19.

Department of Pediatrics and Adolescent Medicine, Charles University in Prague and General University Hospital in Prague, 12808 Prague 2, Czech Republic.

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http://dx.doi.org/10.1091/mbc.E11-08-0674DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3302729PMC
March 2012

Transferrin mutations at the glycosylation site complicate diagnosis of congenital disorders of glycosylation type I.

J Inherit Metab Dis 2011 Aug 23;34(4):901-6. Epub 2011 Mar 23.

Institute for Genetic and Metabolic Disease, Department of Laboratory Medicine / Department of Neurolog, Radboud University Nijmegen Medical Centre, Geert Grooteplein 10, 6525, GA, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1007/s10545-011-9311-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3137782PMC
August 2011

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.

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

Post-natal growth of 157 children born as extremely premature neonates.

J Paediatr Child Health 2011 Mar 21;47(3):111-6. Epub 2010 Nov 21.

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

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http://dx.doi.org/10.1111/j.1440-1754.2010.01897.xDOI 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.

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

Assembly factors and ATP-dependent proteases in cytochrome c oxidase biogenesis.

Biochim Biophys Acta 2010 Jun-Jul;1797(6-7):1149-58. Epub 2010 Apr 14.

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

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http://dx.doi.org/10.1016/j.bbabio.2010.04.006DOI Listing
January 2011

Expression and processing of the TMEM70 protein.

Biochim Biophys Acta 2011 Jan 16;1807(1):144-9. Epub 2010 Oct 16.

Institute of Physiology Academy of Sciences of the Czech Republic, 142 20 Prague, Czech Republic.

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http://dx.doi.org/10.1016/j.bbabio.2010.10.005DOI Listing
January 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.

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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.

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

Posterior Reversible Encephalopathy Syndrome (PRES) in 5-year-old girl with nephrotic syndrome.

Neuro Endocrinol Lett 2010 ;31(3):297-300

Department of Pediatrics and Adolescent Medicine, General University Hospital and 1st Faculty of Medicine, Charles University Prague, Czech Republic.

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October 2010

Novel insights into the assembly and function of human nuclear-encoded cytochrome c oxidase subunits 4, 5a, 6a, 7a and 7b.

Biochem J 2010 May 27;428(3):363-74. Epub 2010 May 27.

Department of Pediatrics, First Faculty of Medicine, Charles University in Prague, Ke Karlovu 2, Prague 2, 12808 Czech Republic.

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http://dx.doi.org/10.1042/BJ20091714DOI Listing
May 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.

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

Novel human pathological mutations. Gene symbol: HMBS. Disease: porphyria, acute intermittent.

Hum Genet 2010 Apr;127(4):477

Department of Pediatrics, Charles University, 1st Faculty of Medicine, Prague, Czech Republic.

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April 2010

Rapid and accurate denaturating high performance liquid chromatography protocol for the detection of alpha-l-iduronidase mutations causing mucopolysaccharidosis type I.

Clin Chim Acta 2010 Mar 29;411(5-6):345-50. Epub 2009 Nov 29.

Department of Pediatrics and Adolescent Medicine, Laboratory for Inherited Metabolic Disorders, Medical University of Vienna, Vienna, Austria.

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http://dx.doi.org/10.1016/j.cca.2009.11.027DOI Listing
March 2010

Cytosine-Adenosine (CA)n repeats polymorphism in IGF-I gene and early growth in infants born appropriate and small for gestational age.

Neuro Endocrinol Lett 2009 ;30(4):501-5

Department of Paediatrics, Charles University in Prague, Czech Republic.

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March 2010

Enzyme replacement therapy for Gaucher disease in twin pregnancy.

Int J Gynaecol Obstet 2009 Jul 5;106(1):64-6. Epub 2009 Apr 5.

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

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http://doi.wiley.com/10.1016/j.ijgo.2009.02.014
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http://dx.doi.org/10.1016/j.ijgo.2009.02.014DOI Listing
July 2009

TMEM70 protein - a novel ancillary factor of mammalian ATP synthase.

Biochim Biophys Acta 2009 May 6;1787(5):529-32. Epub 2008 Dec 6.

Department of Bioenergetics, Academy of Sciences of the Czech Republic, Vídenská 1083, 142 20 Prague 4-Krc, Czech Republic.

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http://dx.doi.org/10.1016/j.bbabio.2008.11.013DOI Listing
May 2009

Loss of function of Sco1 and its interaction with cytochrome c oxidase.

Am J Physiol Cell Physiol 2009 May 18;296(5):C1218-26. Epub 2009 Mar 18.

Charles University, Prague 128 08, Czech Republic.

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http://ajpcell.physiology.org/content/ajpcell/296/5/C1218.fu
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http://ajpcell.physiology.org/cgi/doi/10.1152/ajpcell.00564.
Publisher Site
http://dx.doi.org/10.1152/ajpcell.00564.2008DOI Listing
May 2009

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.

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

Gene symbol: HMBS. Disease: Porphyria, acute intermittent.

Hum Genet 2008 Oct;124(3):315

1st School of Medicine, Charles University of Prague, Department of Pediatrics, Ke Karlovu, 2, 12808 Prague 2, Czech Republic.

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October 2008

Gene symbol: MECP2. Disease: Rett syndrome.

Hum Genet 2008 Oct;124(3):315

First School of Medicine Charles University, Department of Pediatrics, Ke Karlovu, 2, 12808 Prague, Czech Republic.

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October 2008

1H MR spectroscopy as a diagnostic tool for cerebral creatine deficiency.

MAGMA 2008 Sep 26;21(5):327-32. Epub 2008 Aug 26.

MR-Unit, Department of Diagnostic and Interventional Radiology, Institute for Clinical and Experimental Medicine, Videnska 1958/9, 140 21, Prague 4, Czech Republic.

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http://dx.doi.org/10.1007/s10334-008-0137-zDOI Listing
September 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.

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

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

APMIS 2008 Jan;116(1):41-9

Centre of Applied Genomics, Department of Paediatrics, Charles University and University Hospital, Prague, Czech Republic.

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http://dx.doi.org/10.1111/j.1600-0463.2008.00772.xDOI Listing
January 2008