F W Verheijen

Summary

Affiliation: Erasmus University
Country: The Netherlands

Publications

  1. ncbi A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases
    F W Verheijen
    Department of Clinical Genetics, Erasmus University and Academic Hospital, Erasmus Medical Centre of Rotterdam, Rotterdam, The Netherlands
    Nat Genet 23:462-5. 1999
  2. ncbi Molecular heterogeneity in human beta-galactosidase and neuraminidase deficiency
    H Galjaard
    Department of Cell Biology and Genetics, Erasmus University, Rotterdam, The Netherlands
    Enzyme 38:132-43. 1987
  3. ncbi Lysosomal transport disorders
    G M Mancini
    Department of Clinical Genetics, Erasmus University, Rotterdam, The Netherlands
    J Inherit Metab Dis 23:278-92. 2000
  4. ncbi Expression of cDNA encoding the human "protective protein" associated with lysosomal beta-galactosidase and neuraminidase: homology to yeast proteases
    N J Galjart
    Department of Cell Biology and Genetics, Erasmus University, Rotterdam, The Netherlands
    Cell 54:755-64. 1988
  5. pmc Sialic acid storage diseases. A multiple lysosomal transport defect for acidic monosaccharides
    G M Mancini
    Department of Cell Biology and Genetics, Erasmus University, Rotterdam, The Netherlands
    J Clin Invest 87:1329-35. 1991
  6. doi Hemoglobin precipitation greatly improves 4-methylumbelliferone-based diagnostic assays for lysosomal storage diseases in dried blood spots
    L F Oemardien
    Department of Clinical Genetics, Erasmus MC, Center for Lysosomal and Metabolic Diseases, Rotterdam, The Netherlands
    Mol Genet Metab 102:44-8. 2011
  7. ncbi Brain abnormalities in a case of malonyl-CoA decarboxylase deficiency
    M C Y de Wit
    Department of Child Neurology, Erasmus Medical Center, Rotterdam, The Netherlands
    Mol Genet Metab 87:102-6. 2006
  8. ncbi An Italian severe Salla disease variant associated with a SLC17A5 mutation earlier described in infantile sialic acid storage disease
    R Biancheri
    III Department of Paediatrics, G Gaslini Institute, University of Genova, Genova, Italy
    Clin Genet 61:443-7. 2002
  9. ncbi Homozygosity for the p.K136E mutation in the SLC17A5 gene as cause of an Italian severe Salla disease
    R Biancheri
    Department of Neuroscience and Rehabilitation, Muscular and Neurodegenerative Disease Unit, G Gaslini Institute, University of Genova, Genova, Italy
    Neurogenetics 6:195-9. 2005

Collaborators

  • G M Mancini
  • S Palmeri
  • G J G Ruijter
  • Carlo Minetti
  • Antonio Rossi
  • R Biancheri
  • L F Oemardien
  • J B C de Klerk
  • M C Y de Wit
  • R Schot
  • E Verbeek
  • A M Boer
  • A T Van der Ploeg
  • A J J Reuser
  • G C Schoonderwoerd
  • I F M de Coo
  • M Duran
  • M H Lequin
  • J G M Huijmans
  • F Corsolini
  • H A Verbeek
  • M Filocamo
  • S Assereto
  • L Roccatagliata
  • Op van Diggelen
  • R Gaggero
  • R Gatti
  • H Galjaard
  • N J Galjart
  • A D'AZZO
  • R Willemsen
  • G T van der Horst
  • A T Hoogeveen
  • A Harris
  • N Gillemans

Detail Information

Publications9

  1. ncbi A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases
    F W Verheijen
    Department of Clinical Genetics, Erasmus University and Academic Hospital, Erasmus Medical Centre of Rotterdam, Rotterdam, The Netherlands
    Nat Genet 23:462-5. 1999
    ..Our observations suggest that mutations in SLC17A5 are the primary cause of lysosomal sialic acid storage diseases...
  2. ncbi Molecular heterogeneity in human beta-galactosidase and neuraminidase deficiency
    H Galjaard
    Department of Cell Biology and Genetics, Erasmus University, Rotterdam, The Netherlands
    Enzyme 38:132-43. 1987
    ..Another interesting model for the study of posttranslational processing is the defective phosphorylation of beta-galactosidase in cells from patients with GM1-gangliosidosis...
  3. ncbi Lysosomal transport disorders
    G M Mancini
    Department of Clinical Genetics, Erasmus University, Rotterdam, The Netherlands
    J Inherit Metab Dis 23:278-92. 2000
    ..The recent identification of the gene mutations for both disorders will improve patient diagnosis and shed light on new physiological mechanisms of intracellular trafficking...
  4. ncbi Expression of cDNA encoding the human "protective protein" associated with lysosomal beta-galactosidase and neuraminidase: homology to yeast proteases
    N J Galjart
    Department of Cell Biology and Genetics, Erasmus University, Rotterdam, The Netherlands
    Cell 54:755-64. 1988
    ..The predicted amino acid sequence of the "protective protein" bears homology to yeast carboxypeptidase Y and the KEX1 gene product. This suggests a protease activity for the "protective protein."..
  5. pmc Sialic acid storage diseases. A multiple lysosomal transport defect for acidic monosaccharides
    G M Mancini
    Department of Cell Biology and Genetics, Erasmus University, Rotterdam, The Netherlands
    J Clin Invest 87:1329-35. 1991
    ..This study reports the first observation of a human lysosomal transport defect for multiple physiological compounds...
  6. doi Hemoglobin precipitation greatly improves 4-methylumbelliferone-based diagnostic assays for lysosomal storage diseases in dried blood spots
    L F Oemardien
    Department of Clinical Genetics, Erasmus MC, Center for Lysosomal and Metabolic Diseases, Rotterdam, The Netherlands
    Mol Genet Metab 102:44-8. 2011
    ..The modified method provides a clear separation of patients' and controls' ranges for ten different lysosomal enzyme assays in dried blood spots, and approaches the conventional leukocyte assays in outcome quality...
  7. ncbi Brain abnormalities in a case of malonyl-CoA decarboxylase deficiency
    M C Y de Wit
    Department of Child Neurology, Erasmus Medical Center, Rotterdam, The Netherlands
    Mol Genet Metab 87:102-6. 2006
    ....
  8. ncbi An Italian severe Salla disease variant associated with a SLC17A5 mutation earlier described in infantile sialic acid storage disease
    R Biancheri
    III Department of Paediatrics, G Gaslini Institute, University of Genova, Genova, Italy
    Clin Genet 61:443-7. 2002
    ..Conversely, mutations found in ISSD can be expected, even in patients showing the Salla phenotype (e.g. symptoms at the milder end of the spectrum)...
  9. ncbi Homozygosity for the p.K136E mutation in the SLC17A5 gene as cause of an Italian severe Salla disease
    R Biancheri
    Department of Neuroscience and Rehabilitation, Muscular and Neurodegenerative Disease Unit, G Gaslini Institute, University of Genova, Genova, Italy
    Neurogenetics 6:195-9. 2005
    ....