title: New GLB1 mutation in siblings with Morquio type B disease presenting with mental regression.
authors.forename: Fabiana Quoos
authors.initials: FQ
authors.lastname: Mayer
authors.forename: Fernanda dos Santos
authors.initials: Fdos S
authors.lastname: Pereira
authors.forename: Anthony H
authors.initials: AH
authors.lastname: Fensom
authors.forename: Christina
authors.initials: C
authors.lastname: Slade
authors.forename: Ursula
authors.initials: U
authors.lastname: Matte
authors.forename: Roberto
authors.initials: R
authors.lastname: Giugliani
mesh_terms: D005260:Female; D006801:Humans; D008297:Male; D009085:Mucopolysaccharidosis IV / Q000235:genetics* / Q000523:psychology; D020125:Mutation, Missense; D010641:Phenotype; D012043:Regression, Psychology; D035781:Siblings; D001616:beta-Galactosidase / Q000235:genetics*
chemical_list: C061901:GLB1 protein, human; D001616:beta-Galactosidase