B J Poorthuis

Summary

Country: The Netherlands

Publications

  1. ncbi request reprint The frequency of lysosomal storage diseases in The Netherlands
    B J Poorthuis
    Dept of Pediatrics and Clinical Genetics, Leiden University of Medical Center, The Netherlands
    Hum Genet 105:151-6. 1999

Collaborators

Detail Information

Publications1

  1. ncbi request reprint The frequency of lysosomal storage diseases in The Netherlands
    B J Poorthuis
    Dept of Pediatrics and Clinical Genetics, Leiden University of Medical Center, The Netherlands
    Hum Genet 105:151-6. 1999
    ..Mucolipidoses and oligosaccharidoses are very rare with birth prevalences between 0.04 and 0.20 for individual diseases. Only 49 cases were diagnosed between 1970 and 1996. Their combined birth prevalence is 1.0 per 100,000 live births...