Helena Hulkova

Summary

Affiliation: Charles University
Country: Czech Republic

Publications

  1. pmc Adipocytes participate in storage in α-galactosidase deficiency (Fabry disease)
    Helena Hulkova
    Institute of Inherited Metabolic Disorders, Charles University, 1st Faculty of Medicine and Teaching Hospital, Prague, Czech Republic
    J Inherit Metab Dis 33:S297-300. 2010
  2. doi Distinctive histopathological features that support a diagnosis of cholesterol ester storage disease in liver biopsy specimens
    Helena Hulkova
    Institute of Inherited Metabolic Disorders, Charles University, 1st Faculty of Medicine and The General Teaching Hospital, Prague, Czech Republic
    Histopathology 60:1107-13. 2012
  3. pmc Abnormal nonstoring capillary endothelium: a novel feature of Gaucher disease. Ultrastructural study of dermal capillaries
    Helena Hulkova
    Faculty of Medicine and General Teaching Hospital, Institute of Inherited Metabolic Disorders, Charles University in Prague, Praha, Czech Republic
    J Inherit Metab Dis 33:69-78. 2010
  4. pmc Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis
    Lenka Noskova
    Institute for Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague, Prague, Czech Republic
    Am J Hum Genet 89:241-52. 2011
  5. ncbi Hypertrophic cardiomyopathy due to the mitochondrial DNA mutation m.3303C>T diagnosed in an adult male
    Tomas Palecek
    2nd Department of Medicine, Department of Cardiovascular Medicine, General University Hospital in Prague, First Faculty of Medicine, Charles University in Prague, Prague, Czech Republic
    Int Heart J 53:383-7. 2012
  6. doi Glycosphingolipid profile of the apical pole of human placental capillaries: the relevancy of the observed data to Fabry disease
    Helena Hulkova
    Institute of Inherited Metabolic Disorders, First Faculty of Medicine and General University Hospital, Charles University in Prague, Ke Karlovu 2, 120 00 Praha 2, Czech Republic
    Glycobiology 22:725-32. 2012
  7. ncbi Isolated X-linked hypertrophic cardiomyopathy caused by a novel mutation of the four-and-a-half LIM domain 1 gene
    Hana Hartmannova
    Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague, Prague, Czech Republic
    Circ Cardiovasc Genet 6:543-51. 2013
  8. doi Loss of function of Sco1 and its interaction with cytochrome c oxidase
    Lukas Stiburek
    Charles University, Prague 128 08, Czech Republic
    Am J Physiol Cell Physiol 296:C1218-26. 2009
  9. pmc Novel allelic variants and evidence for a prevalent mutation in URAT1 causing renal hypouricemia: biochemical, genetics and functional analysis
    Blanka Stiburkova
    Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic
    Eur J Hum Genet 21:1067-73. 2013
  10. pmc Replacement of alpha-galactosidase A in Fabry disease: effect on fibroblast cultures compared with biopsied tissues of treated patients
    Jana Keslová-Veselíková
    Institute of Inherited Metabolic Disorders, Bldg D, Division B Ke Karlovu 2, 128 08, Prague 2, Czech Republic
    Virchows Arch 452:651-65. 2008

Collaborators

Detail Information

Publications11

  1. pmc Adipocytes participate in storage in α-galactosidase deficiency (Fabry disease)
    Helena Hulkova
    Institute of Inherited Metabolic Disorders, Charles University, 1st Faculty of Medicine and Teaching Hospital, Prague, Czech Republic
    J Inherit Metab Dis 33:S297-300. 2010
    ..The results extend the thus far limited information on the adipocyte lysosomal system and its participation in lysosomal storage disorders. ..
  2. doi Distinctive histopathological features that support a diagnosis of cholesterol ester storage disease in liver biopsy specimens
    Helena Hulkova
    Institute of Inherited Metabolic Disorders, Charles University, 1st Faculty of Medicine and The General Teaching Hospital, Prague, Czech Republic
    Histopathology 60:1107-13. 2012
    ..To identify reliable criteria with which to improve the diagnosis of lysosomal acid lipase (LAL) deficiency of the cholesterol ester storage disease (CESD) type in liver biopsies...
  3. pmc Abnormal nonstoring capillary endothelium: a novel feature of Gaucher disease. Ultrastructural study of dermal capillaries
    Helena Hulkova
    Faculty of Medicine and General Teaching Hospital, Institute of Inherited Metabolic Disorders, Charles University in Prague, Praha, Czech Republic
    J Inherit Metab Dis 33:69-78. 2010
    ....
  4. pmc Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis
    Lenka Noskova
    Institute for Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague, Prague, Czech Republic
    Am J Hum Genet 89:241-52. 2011
    ....
  5. ncbi Hypertrophic cardiomyopathy due to the mitochondrial DNA mutation m.3303C>T diagnosed in an adult male
    Tomas Palecek
    2nd Department of Medicine, Department of Cardiovascular Medicine, General University Hospital in Prague, First Faculty of Medicine, Charles University in Prague, Prague, Czech Republic
    Int Heart J 53:383-7. 2012
    ..No other extracardiac manifestations of mitochondrial disorder were observed...
  6. doi Glycosphingolipid profile of the apical pole of human placental capillaries: the relevancy of the observed data to Fabry disease
    Helena Hulkova
    Institute of Inherited Metabolic Disorders, First Faculty of Medicine and General University Hospital, Charles University in Prague, Ke Karlovu 2, 120 00 Praha 2, Czech Republic
    Glycobiology 22:725-32. 2012
    ..Placental villous capillary endothelial cells displaying a strong non-lysosomal staining for Gb3Cer were free of lysosomal storage...
  7. ncbi Isolated X-linked hypertrophic cardiomyopathy caused by a novel mutation of the four-and-a-half LIM domain 1 gene
    Hana Hartmannova
    Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague, Prague, Czech Republic
    Circ Cardiovasc Genet 6:543-51. 2013
    ..However, molecular pathogenesis of this phenotype remains unexplained in a large proportion of cases...
  8. doi Loss of function of Sco1 and its interaction with cytochrome c oxidase
    Lukas Stiburek
    Charles University, Prague 128 08, Czech Republic
    Am J Physiol Cell Physiol 296:C1218-26. 2009
    ....
  9. pmc Novel allelic variants and evidence for a prevalent mutation in URAT1 causing renal hypouricemia: biochemical, genetics and functional analysis
    Blanka Stiburkova
    Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic
    Eur J Hum Genet 21:1067-73. 2013
    ..Furthermore, results confirm an uneven geographical and ethnic distribution of SLC22A12 variants; the p.L415_G417del mutation predominates in the Roma ethnic group in the Czech Republic...
  10. pmc Replacement of alpha-galactosidase A in Fabry disease: effect on fibroblast cultures compared with biopsied tissues of treated patients
    Jana Keslová-Veselíková
    Institute of Inherited Metabolic Disorders, Bldg D, Division B Ke Karlovu 2, 128 08, Prague 2, Czech Republic
    Virchows Arch 452:651-65. 2008
    ..These observations support the strategy of early treatment for prevention of lysosomal storage...
  11. pmc Dominant renin gene mutations associated with early-onset hyperuricemia, anemia, and chronic kidney failure
    Martina Zivná
    Center for Applied Genomics, Charles University in Prague, First Faculty of Medicine, Prague, Czech Republic
    Am J Hum Genet 85:204-13. 2009
    ..Our findings provide insight into the functionality of renin-angiotensin system and stress the importance of renin analysis in families and individuals with early onset hyperuricemia, anemia, and progressive kidney failure...