Associated Papers
Rare-variant burden across lysosomal genes implicates sialylation and ganglioside metabolism in Parkinson's disease.
Senkevich K et al.
Medrxiv : the Preprint Server for Health Sciences, 2026
Mucopolysaccharidosis type VII (Sly syndrome) - What do we know?
Grant CL et al.
Molecular Genetics and Metabolism, 2024
Role of Lysosomal Gene Variants in Modulating GBA-Associated Parkinson's Disease Risk.
Straniero L et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2022
A Comprehensive, Targeted NGS Approach to Assessing Molecular Diagnosis of Lysosomal Storage Diseases.
La Cognata V et al.
Genes, 2021
Progressive cerebellar atrophy in a patient with complex II and III deficiency and a novel deleterious variant in SDHA: A Counseling Conundrum.
Sturrock BRH et al.
Molecular Genetics & Genomic Medicine, 2021
Estimated prevalence of mucopolysaccharidoses from population-based exomes and genomes.
Borges P et al.
Orphanet Journal of Rare Diseases, 2020
Identification of a variant hotspot in MYBPC3 and of a novel CSRP3 autosomal recessive alteration in a cohort of Polish patients with hypertrophic cardiomyopathy.
Lipari M et al.
Polish Archives of Internal Medicine, 2020
Polymorphic variants (p.Ser141Ser and p.Arg737Gly) at the NAGLU gene are really indicative of pseudodeficiency alleles?
Rojas Malaga D et al.
Italian Journal of Pediatrics, 2019
Biochemical and molecular analysis in mucopolysaccharidoses: what a paediatrician must know.
Filocamo M et al.
Italian Journal of Pediatrics, 2018
A new case report of severe mucopolysaccharidosis type VII: diagnosis, treatment with haematopoietic cell transplantation and prenatal diagnosis in a second pregnancy.
Furlan F et al.
Italian Journal of Pediatrics, 2018
Cardiac arrhythmia and neuroexcitability gene variants in resected brain tissue from patients with sudden unexpected death in epilepsy (SUDEP).
Friedman D et al.
Npj Genomic Medicine, 2018
Human β-glucuronidase: structure, function, and application in enzyme replacement therapy.
Naz H et al.
Rejuvenation Research, 2013
Clinical, Cytogenetic, and Biochemical Analyses of a Family with a t(3;13)(q26.2;p11.2): Further Delineation of 3q Duplication Syndrome.
Abreu-González M et al.
Case Reports in Genetics, 2013
Lysosomal storage disorders: molecular basis and laboratory testing.
Filocamo M et al.
Human Genomics, 2011
Mutations and polymorphisms in GUSB gene in mucopolysaccharidosis VII (Sly Syndrome).
Tomatsu S et al.
Human Mutation, 2009
Gain-of-glycosylation mutations.
Vogt G et al.
Current Opinion in Genetics & Development, 2007
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
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
Molecular analysis of the beta-glucuronidase gene: novel mutations in mucopolysaccharidosis type VII and heterogeneity of the polyadenylation region.
Vervoort R et al.
Human Genetics, 1997
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
Molecular analysis of patients with beta-glucuronidase deficiency presenting as hydrops fetalis or as early mucopolysaccharidosis VII.
Vervoort R et al.
American Journal of Human Genetics, 1996
A pseudodeficiency allele (D152N) of the human beta-glucuronidase gene.
Vervoort R et al.
American Journal of Human Genetics, 1995