Transplantační medicína

Gaucher disease is a lysosomal storage disorder caused by a pathogenic variant in the gene responsible for producing the enzyme acid β-glucosidase. More than 300 alleles carrying pathogenic variants have already been identified.¹

Gaucher disease is rare and has signs and symptoms that can be confused with those of many other diseases. However, some tests allow the definitive diagnosis of the disease.

Gaucher disease is rare and has signs and symptoms that can be confused with those of many other diseases. However, some tests allow the definitive diagnosis of the disease.

Obejrzysz w 75 minut

En esta cápsula médica del Congreso Europeo de Infectología Pediátrica (ESPID) Bolonia 2026, la Dra. Celia Martínez de Cuéllar presenta los resultados extraordinarios en la reducción de casos de VSR en el Instituto de Medicina Tropical de Paraguay.