The Journal of Pediatrics
Volume 155, Issue 4, Supplement , Page S9 , October 2009

Introduction to Brazilian Guidelines to Diagnosis, Treatment, and Monitoring for Gaucher Disease, Fabry Disease, Mucopolysaccharidosis I, and Pompe Disease

  • Ana Maria Martins, MD, PhD

      Affiliations

    • Corresponding Author InformationReprint requests: Ana Maria Martins, MD, PhD, Rua Joaquim Antunes, 320/72, CEP 05415-010-São Paulo, SP.

References 

  1. Applegarth DA, Toone JR, Lowty RB. Incidence of inborn errors of metabolism in British Columbia, 1969–1996. Pediatrics. 2000;105:10
  2. Meikle PJ, Hopwood JJ. Lysosomal storage disorders: emerging therapeutic options require early diagnosis. Eur J Pediatr. 2003;162:S34–S37
  3. Schmitz J, Poll LW, Dahl SV. Therapy of adult Gaucher disease. Haematologica. 2007;65:37–42
  4. Beutler E, Grabowski GA. Gaucher disease. In:  Scriver CR,  Beaudet AL,  Sly WS,  Valle D editor. The metabolic and molecular bases of inherited disease. New York: McGraw-Hill; 2001;p. 3635–3668
  5. Desnick RJ, Ioannou YA, Eng CM. α-Galactosidase A deficiency: Fabry disease. In:  Scriver CR,  Beaudet AL,  Sly WS,  Valle D editor. The metabolic and molecular bases of inherited disease. New York: McGraw-Hill; 2001;p. 3733–3774
  6. Hirschhorn R, Reuser AJJ. Glycogen storage disease type II: acid-α- glucosidase (acid maltase) deficiency. In:  Scriver CR,  Beaudet AL,  Sly WS,  Valle D editor. The metabolic and molecular bases of inherited disease. New York: McGraw-Hill; 2001;p. 3389–3420
  7. Neufeld EF, Muenzer J. The mucopolysaccharidoses. In:  Scriver CR,  Beaudet AL,  Sly WS,  Valle D editor. The metabolic and molecular bases of inherited disease. New York: McGraw-Hill; 2001;p. 3421–3452
  8. Beutler E. Lysossomal Storage diseases: natural history and ethical and economic aspects. Mol Genet Metab. 2006;88:208–215
  9. Beck M. New therapeutic options for lysosomal storage disorders: enzyme replacement, small molecules and gene therapy. Hum Genet. 2007;121:1–22

 The author declares no external funding or conflicts of interest.

PII: S0022-3476(09)00672-6

doi: 10.1016/j.jpeds.2009.07.007

The Journal of Pediatrics
Volume 155, Issue 4, Supplement , Page S9 , October 2009