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Important aspects in the molecular diagnosis of mucopolysaccharidoses

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Journal of Inherited Metabolic Disease

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References

  • 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

  • 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 1191–1211

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Conflict of Interest

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Authors and Affiliations

  1. Medical Genetics Service, Hospital de Clinicas de Porto Alegre (HCPA), Porto Alegre, RS, Brazil

    Ana Carolina Brusius-Facchin, Francyne Kubaski, Roberto Giugliani & Sandra Leistner-Segal

  2. Post Graduation Program in Medical Sciences, UFRGS, Porto Alegre, RS, Brazil

    Ana Carolina Brusius-Facchin, Francyne Kubaski & Sandra Leistner-Segal

  3. Department of Genetics, UFRGS, Porto Alegre, RS, Brazil

    Roberto Giugliani

Authors
  1. Ana Carolina Brusius-Facchin
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  2. Francyne Kubaski
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  3. Roberto Giugliani
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  4. Sandra Leistner-Segal
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Corresponding author

Correspondence to Sandra Leistner-Segal.

Additional information

Communicated by: Ed Wraith

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Brusius-Facchin, A.C., Kubaski, F., Giugliani, R. et al. Important aspects in the molecular diagnosis of mucopolysaccharidoses. J Inherit Metab Dis 36, 905–906 (2013). https://doi.org/10.1007/s10545-012-9557-z

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  • DOI: https://doi.org/10.1007/s10545-012-9557-z

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