Morquio B Disease. Disease Characteristics and Treatment Options of a Distinct GLB1-Related Dysostosis Multiplex

Substrate reduction therapy with Miglustat in pediatric patients with GM1 type 2 gangliosidosis delays neurological involvement: A multicenter experience

(2020) Rita Fischetto et al.   Molecular Genetics & Genomic Medicine

Intracerebroventricular enzyme replacement therapy with Beta-Galactosidase reverses brain pathologies due to GM1 gangliosidosis in mice

(2019) Joseph C Chen et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Glycosaminoglycans analysis in blood and urine of patients with mucopolysaccharidosis

(2018) Shaukat A. Khan et al.   MOLECULAR GENETICS AND METABOLISM

Audiometric evaluation in individuals with mucopolysaccharidosis

(2018) MS Silveira et al.   Clinics

Comprehensive behavioral and biochemical outcomes of novel murine models of GM1-gangliosidosis and Morquio syndrome type B

(2018) Michael J. Przybilla et al.   MOLECULAR GENETICS AND METABOLISM

(5a R )-5a- C- Pentyl-4- epi -isofagomine: A powerful inhibitor of lysosomal β-galactosidase and a remarkable chaperone for mutations associated with GM1-gangliosidosis and Morquio disease type B

(2017) Sophie Front et al.   EUROPEAN JOURNAL OF MEDICINAL CHEMISTRY

Duvoglustat HCl Increases Systemic and Tissue Exposure of Active Acid α-Glucosidase in Pompe Patients Co-administered with Alglucosidase α

(2017) Priya Kishnani et al.   MOLECULAR THERAPY

Non-invasive pulmonary function test on Morquio patients

(2015) Francyne Kubaski et al.   MOLECULAR GENETICS AND METABOLISM

Crystal Structure of Human β-Galactosidase

(2011) Umeharu Ohto et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Phenotype determining alleles in GM1 gangliosidosis patients bearing novel GLB1 mutations

(2010) D Hofer et al.   CLINICAL GENETICS

GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid β-galactosidase

(2009) Doris Hofer et al.   HUMAN MUTATION

New GLB1 mutation in siblings with Morquio type B disease presenting with mental regression

(2008) Fabiana Quoos Mayer et al.   MOLECULAR GENETICS AND METABOLISM