Associated Papers
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric central nervous system tumors.
Corbett RJ et al.
Nature Communications, 2025
Mucopolysaccharidoses-What Clinicians Need to Know: A Clinical, Biochemical, and Molecular Overview.
Lipiński P et al.
Biomolecules, 2025
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric CNS tumors.
Corbett RJ et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Analysis of genomic ancestry and characterization of a new variant in MPS type VII.
da Costa AJM et al.
Orphanet Journal of Rare Diseases, 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
Long-Term Follow-up Posthematopoietic Stem Cell Transplantation in a Japanese Patient with Type-VII Mucopolysaccharidosis.
Orii K et al.
Diagnostics (basel, Switzerland), 2020
Oral manifestations in patients and dogs with mucopolysaccharidosis Type VII.
Kantaputra PN et al.
American Journal of Medical Genetics. Part A, 2019
Epidemiology of mucopolysaccharidoses.
Khan SA et al.
Molecular Genetics and Metabolism, 2017
Large scale analysis of the mutational landscape in β-glucuronidase: A major player of mucopolysaccharidosis type VII.
Khan FI et al.
Gene, 2016
Human β-glucuronidase: structure, function, and application in enzyme replacement therapy.
Naz H et al.
Rejuvenation Research, 2013
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
Mutations and polymorphisms in GUSB gene in mucopolysaccharidosis VII (Sly Syndrome).
Tomatsu S et al.
Human Mutation, 2009
Mucopolysaccharidosis VII: clinical, biochemical and molecular investigation of a Brazilian family.
Schwartz I et al.
Clinical Genetics, 2003
Recombinant adeno-associated virus-mediated correction of lysosomal storage within the central nervous system of the adult mucopolysaccharidosis type VII mouse.
Sferra TJ et al.
Human Gene Therapy, 2000
Treatment of MPS VII (Sly disease) by allogeneic BMT in a female with homozygous A619V mutation.
Yamada Y et al.
Bone Marrow Transplantation, 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
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