Deficiencia de glucosilceramidasa; Deficiencia de glucocerebrosidasa
Se recomienda la asesorÃa genética para las parejas con antecedentes familiares del sÃndrome de Gaucher que planean tener hijos. Con las pruebas, se puede determinar si los padres son portadores del gen que podrÃa transmitir la enfermedad. También es posible determinar en un examen prenatal si el feto sufre este sÃndrome.
Behrman RE. Nelson Textbook of Pediatrics. 17th ed. Philadelphia, Pa: WB Saunders: 2004; 463-464.
Kumar V, Abbas AK, Fausto N. Robbins and Cotran Pathologic Basis of Disease . 7th ed. St. Louis, Mo: WB Saunders; 2005:163-165.
Sidransky E, Lamarca ME, Ginns EI. Therapy for Gaucher disease: Don't stop thinking about tomorrow. Mol Genet Metab . 2007 Feb;90(2):122-5. Epub 2006 Nov 3.
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