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Journal of Inherited Metabolic Disease

, Volume 36, Issue 5, pp 905–906 | Cite as

Important aspects in the molecular diagnosis of mucopolysaccharidoses

  • Ana Carolina Brusius-Facchin
  • Francyne Kubaski
  • Roberto Giugliani
  • Sandra Leistner-Segal
Letter to the Editors

Keywords

Genetic Counseling Prenatal Diagnosis Genetic Diagnosis Recurrent Mutation Uniparental Disomy 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Notes

Conflict of Interest

None.

References

  1. Pollard LM, Jones JR, Wood TC (2012) Molecular characterization of 355 mucopolysaccharidosis patients reveals 104 novel mutations. J Inherit Metab Dis. doi: 10.1007/s10545-012-9533-7
  2. Neufeld EF, Muenzer J (2001) The Mucopolysaccharidoses. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular basis of inherited disease, 7th edn. McGraw-Hill, New York, pp 1191–1211Google Scholar

Copyright information

© SSIEM and Springer Science+Business Media Dordrecht 2012

Authors and Affiliations

  • Ana Carolina Brusius-Facchin
    • 1
    • 2
  • Francyne Kubaski
    • 1
    • 2
  • Roberto Giugliani
    • 1
    • 3
  • Sandra Leistner-Segal
    • 1
    • 2
  1. 1.Medical Genetics ServiceHospital de Clinicas de Porto Alegre (HCPA)Porto AlegreBrazil
  2. 2.Post Graduation Program in Medical SciencesUFRGSPorto AlegreBrazil
  3. 3.Department of GeneticsUFRGSPorto AlegreBrazil

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