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Revista Médica del Uruguay

Print version ISSN 0303-3295On-line version ISSN 1688-0390


LEMES, Aída et al. Tres casos de enfermedad de Gaucher tipo I: Clínica, diagnóstico, genética molecular y tratamiento actual. Rev. Méd. Urug. [online]. 2006, vol.22, n.1, pp.73-77. ISSN 0303-3295.

Summary Type 1 Gaucher disease is an inherited autosomal recesive disorder, determined by a deficiency of the acid ß-glucosidase enzyme and macrophage lysosomal storage of glucosylceramide. Common symptoms are visceromegaly, bleeding, anemia and bone pain; there is no central nervous system commitment. It could appear in childhood or adulthood and might be asymptomatic. Many mutations have been detected. It has symptomatic and specific treatment. The presentation includes three non-relative cases in which the disease appeared during adulthood; clinical, biochemical, molecular and treatment aspects are analyzed. The importance of diagnosis is highlighted.

Keywords : ENFERMEDAD DE GAUCHER [diagnóstico]; ENFERMEDAD DE GAUCHER [genética]; ENFERMEDAD DE GAUCHER [ terapia]; ENFERMEDAD DE GAUCHER [ enzimología]; ENZIMAS [uso terapéutico].

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