Associated Papers
Mucopolysaccharidoses-What Clinicians Need to Know: A Clinical, Biochemical, and Molecular Overview.
Lipiński P et al.
Biomolecules, 2025
Diagnosis and Emerging Treatment Strategies for Mucopolysaccharidosis VII (Sly Syndrome).
Poswar FO et al.
Therapeutics and Clinical Risk Management, 2022
Epidemiology of Mucopolysaccharidoses Update.
Çelik B et al.
Diagnostics (basel, Switzerland), 2021
Epidemiology of mucopolysaccharidoses.
Khan SA et al.
Molecular Genetics and Metabolism, 2017
Elevation of glycosaminoglycans in the amniotic fluid of a fetus with mucopolysaccharidosis VII.
Kubaski F et al.
Prenatal Diagnosis, 2017
Clinical course of sly syndrome (mucopolysaccharidosis type VII).
Montaño AM et al.
Journal of Medical Genetics, 2016
Large scale analysis of the mutational landscape in β-glucuronidase: A major player of mucopolysaccharidosis type VII.
Khan FI et al.
Gene, 2016
Mutations and polymorphisms in GUSB gene in mucopolysaccharidosis VII (Sly Syndrome).
Tomatsu S et al.
Human Mutation, 2009
PCR-based restriction fragment length polymorphism and haplotype of the most common mutation L176F in the beta-glucuronidase gene.
Islam MR et al.
Genetic Testing, 2007
Mucopolysaccharidosis VII: clinical, biochemical and molecular investigation of a Brazilian family.
Schwartz I et al.
Clinical Genetics, 2003
Intracisternal A-particle element transposition into the murine beta-glucuronidase gene correlates with loss of enzyme activity: a new model for beta-glucuronidase deficiency in the C3H mouse.
Gwynn B et al.
Molecular and Cellular Biology, 1998
Beta-glucuronidase P408S, P415L allele in a Mexican population: population screening in Guadalajara and prenatal diagnosis.
Rafiqul Islam M et al.
Prenatal Diagnosis, 1998
Cloning of the canine beta-glucuronidase cDNA, mutation identification in canine MPS VII, and retroviral vector-mediated correction of MPS VII cells.
Ray J et al.
Genomics, 1998
Low beta-glucuronidase enzyme activity and mutations in the human beta-glucuronidase gene in mild mucopolysaccharidosis type VII, pseudodeficiency and a heterozygote.
Vervoort R et al.
Human Genetics, 1998
beta-Glucuronidase P408S, P415L mutations: evidence that both mutations combine to produce an MPS VII allele in certain Mexican patients.
Islam MR et al.
Human Genetics, 1996
A pseudodeficiency allele (D152N) of the human beta-glucuronidase gene.
Vervoort R et al.
American Journal of Human Genetics, 1995
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