Jiri Zeman

Summary

Affiliation: Charles University
Country: Czech Republic

Publications

  1. ncbi Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease
    Maurizio Scarpa
    Department of Pediatrics, University of Padua, Padua, Italy
    Orphanet J Rare Dis 6:72. 2011
  2. ncbi 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
    Alena Cízková
    Center for Applied Genomics, 1st Faculty of Medicine, Charles University, Prague, Czech Republic
    BMC Genomics 9:38. 2008
  3. ncbi [History of foster care in the Czech Republic]
    J Zeman
    Klinika detského a dorostového lékarství 1 LF UK a VFN, Praha
    Cas Lek Cesk 145:673-4. 2006
  4. ncbi Assembly factors and ATP-dependent proteases in cytochrome c oxidase biogenesis
    Lukas Stiburek
    Charles University in Prague, First Faculty of Medicine, Department of Pediatrics, Prague, Czech Republic
    Biochim Biophys Acta 1797:1149-58. 2010
  5. ncbi Cytosine-Adenosine (CA)n repeats polymorphism in IGF-I gene and early growth in infants born appropriate and small for gestational age
    Jitka Kytnarova
    Department of Paediatrics, Charles University in Prague, Czech Republic
    Neuro Endocrinol Lett 30:501-5. 2009
  6. ncbi Biochemical and molecular analyses in three patients with 3-hydroxy-3-methylglutaric aciduria
    E Pospisilova
    Institute of Inherited Metabolic Diseases, General Faculty Hospital and 1st Faculty of Medicine, Prague, Czech Republic
    J Inherit Metab Dis 26:433-41. 2003
  7. ncbi Eight novel ABCD1 gene mutations and three polymorphisms in patients with X-linked adrenoleukodystrophy: The first polymorphism causing an amino acid exchange
    L Dvorakova
    Institute for Inherited Metabolic Disorders, First Faculty of Medicine and General Faculty Hospital, Prague, Czech Republic
    Hum Mutat 18:52-60. 2001
  8. ncbi Maternal hyperphenylalaninemias in healthy Czech population of pregnant women: 30 years experience with screening, prevention and treatment
    J Hyanek
    Institute for Inherited Metabolic Disorders, Obstetric and Gynaecologic Clinic of 1st Medical School Charles University Prague, Czech Republic
    Bratisl Lek Listy 105:291-8. 2004
  9. ncbi Acid sphingomyelinase deficiency. Phenotype variability with prevalence of intermediate phenotype in a series of twenty-five Czech and Slovak patients. A multi-approach study
    H Pavlu-Pereira
    Institute of Inherited Metabolic Disorders, Prague, Czech Republic
    J Inherit Metab Dis 28:203-27. 2005

Collaborators

  • Josef Houstek
  • Petr Divina
  • Johannes A Mayr
  • Alena Cízková
  • E Pospisilova
  • Maurizio Scarpa
  • Lukas Stiburek
  • Jitka Kytnarova
  • H Pavlu-Pereira
  • J Hyanek
  • L Dvorakova
  • Encarna Guillen-Navarro
  • Linda De Meirleir
  • Olaf Bodamer
  • Catherine Stewart
  • Pauline Hensman
  • Gunilla Malm
  • Christine A Lavery
  • James E Wraith
  • Iain A Bruce
  • Nathalie Guffon
  • Michael Beck
  • Michael Rothera
  • Ans van der Ploeg
  • Allan M Lund
  • Simon Jones
  • Bianca Link
  • Susanne Pitz
  • Wolfgang Kamin
  • Zsuzsanna Almassy
  • Christoph Kampmann
  • Elisa Leao Teles
  • Anna Tylki-Szymanska
  • Christina Lampe
  • Robert Walker
  • Alena Dohnalova
  • Blanka Zlatohlavkova
  • Maria Fedorova
  • Katerina Vesela
  • Michal Krsek
  • B Asfaw
  • Z Novotna
  • H Poupctová
  • D Chudoba
  • J Ledvinova
  • K Sandhoff
  • M Elleder
  • M T Vanier
  • J Sikora
  • V Trnka
  • T Paterova
  • E Hrabincova
  • S Stastna
  • L Vadurova
  • J Kobilkova
  • L Kozak
  • H Viletova
  • K Soukup
  • J Krijt
  • A Dolezal
  • M Cervena
  • J Hujová
  • M Hrebicek
  • J Berger
  • G Unterrainer
  • S Kmoch
  • G Storkanova

Detail Information

Publications9

  1. ncbi Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease
    Maurizio Scarpa
    Department of Pediatrics, University of Padua, Padua, Italy
    Orphanet J Rare Dis 6:72. 2011
    ..Take-home message: Expertise in recognising and treating patients with MPS II varies widely between countries. This article presents pan-European recommendations for the diagnosis and management of this life-limiting disease...
  2. ncbi 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
    Alena Cízková
    Center for Applied Genomics, 1st Faculty of Medicine, Charles University, Prague, Czech Republic
    BMC Genomics 9:38. 2008
    ....
  3. ncbi [History of foster care in the Czech Republic]
    J Zeman
    Klinika detského a dorostového lékarství 1 LF UK a VFN, Praha
    Cas Lek Cesk 145:673-4. 2006
    ..The law incorporated ten principles how to provide, control and finance the foster care in our region...
  4. ncbi Assembly factors and ATP-dependent proteases in cytochrome c oxidase biogenesis
    Lukas Stiburek
    Charles University in Prague, First Faculty of Medicine, Department of Pediatrics, Prague, Czech Republic
    Biochim Biophys Acta 1797:1149-58. 2010
    ..In this review, we summarize the current knowledge of the functional involvement of eukaryotic CcO-specific assembly factors and highlight the possible significance for CcO biogenesis of mitochondrial ATP-dependent proteases...
  5. ncbi Cytosine-Adenosine (CA)n repeats polymorphism in IGF-I gene and early growth in infants born appropriate and small for gestational age
    Jitka Kytnarova
    Department of Paediatrics, Charles University in Prague, Czech Republic
    Neuro Endocrinol Lett 30:501-5. 2009
    ..IGF-I gene polymorphisms might alter IGF-I level resulting in decreased foetal and postnatal growth and increased risk for diabetes mellitus type 2 and cardiovascular diseases in adulthood...
  6. ncbi Biochemical and molecular analyses in three patients with 3-hydroxy-3-methylglutaric aciduria
    E Pospisilova
    Institute of Inherited Metabolic Diseases, General Faculty Hospital and 1st Faculty of Medicine, Prague, Czech Republic
    J Inherit Metab Dis 26:433-41. 2003
    ..This study expands the knowledge of the genotypic variability of the HMG aciduria...
  7. ncbi Eight novel ABCD1 gene mutations and three polymorphisms in patients with X-linked adrenoleukodystrophy: The first polymorphism causing an amino acid exchange
    L Dvorakova
    Institute for Inherited Metabolic Disorders, First Faculty of Medicine and General Faculty Hospital, Prague, Czech Republic
    Hum Mutat 18:52-60. 2001
    ..59 C/T in the 5'untranslated region and c.2019 C/T (F673F) in exon 10. The frequencies of these two polymorphisms, were 11/150 and 2/150 control alleles, respectively...
  8. ncbi Maternal hyperphenylalaninemias in healthy Czech population of pregnant women: 30 years experience with screening, prevention and treatment
    J Hyanek
    Institute for Inherited Metabolic Disorders, Obstetric and Gynaecologic Clinic of 1st Medical School Charles University Prague, Czech Republic
    Bratisl Lek Listy 105:291-8. 2004
    ..The toxic effect causes spontaneous abortion or retards intrauterine growth, skeletal malformation, cardiac anomalies can appear. However the most frequent are microcephaly, mental retardation and hypotrophy...
  9. ncbi Acid sphingomyelinase deficiency. Phenotype variability with prevalence of intermediate phenotype in a series of twenty-five Czech and Slovak patients. A multi-approach study
    H Pavlu-Pereira
    Institute of Inherited Metabolic Disorders, Prague, Czech Republic
    J Inherit Metab Dis 28:203-27. 2005
    ..It appears more common in central Europe. The visceral, rapidly progressing early fatal type has been recognized rarely so far...