Article
Mucopolysaccharidoses type VII (Sly syndrome): New uncertain pathogenic variants in GUSB gene.
Revista espanola de patologia : publicacion oficial de la Sociedad Espanola de Anatomia Patologica y de la Sociedad Espanola de Citologia - 1 Jan 2025
Abecia Martínez Emilio I, Puente Prieto Jorge, Delgado Fernández Jorge Luis, Martínez Castillón Javier, Nagore González Carlos, Ferrando Lamana Lucia
Abstract excerpt
Mucopolysaccharidoses (MPS) are a group of diseases caused by the accumulation of glycosaminoglycans (GAGs). Currently, eleven enzyme deficiencies have been described, with eight different MPS subtypes reported. MPS VII, also known as Sly syndrome, is a recessive disorder caused by pathogenic variants in the GUSB gene. This results in dysfunction of the enzyme β-glucuronidase, which can lead to non-immune hydrops...
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