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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
References
- . Incidence of inborn errors of metabolism in British Columbia, 1969–1996. Pediatrics. 2000;105:10
- . Lysosomal storage disorders: emerging therapeutic options require early diagnosis. Eur J Pediatr. 2003;162:S34–S37
- . Therapy of adult Gaucher disease. Haematologica. 2007;65:37–42
- . 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
- . 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
- . 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
- . 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
- . Lysossomal Storage diseases: natural history and ethical and economic aspects. Mol Genet Metab. 2006;88:208–215
- . 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
« Previous
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The Journal of Pediatrics
Volume 155, Issue 4,
Supplement
, Page S9
, October 2009
