New GLB1 mutation in siblings with Morquio type B disease presenting with mental regression.
Mayer
Fabiana Quoos
FQ
Pereira
Fernanda dos Santos
Fdos S
Fensom
Anthony H
AH
Slade
Christina
C
Matte
Ursula
U
Giugliani
Roberto
R
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*
C061901:GLB1 protein, human; D001616:beta-Galactosidase