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
Genetic Burden in Congenital Anomalies of the Mitral and Tricuspid Valves: A Case-Control Study.
Campos-Garcia FJ et al.
Pediatric Cardiology, 2026
Genetic Burden in Congenital Anomalies of the Mitral and Tricuspid Valves: A Case-Control Study.
Campos-Garcia FJ et al.
Pediatric Cardiology, 2025
Mucopolysaccharidoses-What Clinicians Need to Know: A Clinical, Biochemical, and Molecular Overview.
Lipiński P et al.
Biomolecules, 2025
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Lysosomal storage disorders in nonimmune hydrops fetalis diagnosed by exome sequencing.
Makhamreh MM et al.
Orphanet Journal of Rare Diseases, 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
A de novo homozygous missense mutation of the GUSB gene leads to mucopolysaccharidosis type VII identification in a family with twice adverse pregnancy outcomes due to non-immune hydrops fetalis.
Du R et al.
Molecular Genetics and Metabolism Reports, 2024
Mucopolysaccharidosis type VII (Sly syndrome) - What do we know?
Grant CL et al.
Molecular Genetics and Metabolism, 2024
Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool.
Tran Mau-Them F et al.
Frontiers in Genetics, 2023
MPS VII - Extending the classical phenotype.
Oldham A et al.
Molecular Genetics and Metabolism Reports, 2022
Misdiagnosis in mucopolysaccharidoses.
Wiśniewska K et al.
Journal of Applied Genetics, 2022
Importance of genetic testing in unexplained cardiac arrest.
Grondin S et al.
European Heart Journal, 2022
Long-term efficacy and safety of vestronidase alfa enzyme replacement therapy in pediatric subjects < 5 years with mucopolysaccharidosis VII.
Lau HA et al.
Molecular Genetics and Metabolism, 2022
Diagnosis and Emerging Treatment Strategies for Mucopolysaccharidosis VII (Sly Syndrome).
Poswar FO et al.
Therapeutics and Clinical Risk Management, 2022
Description of the molecular and clinical characteristics of the mucopolysaccharidosis type VII Iberian cohort.
Gónzalez-Meneses A et al.
Orphanet Journal of Rare Diseases, 2021
Mucopolysaccharidosis VII in Brazil: natural history and clinical findings.
Giugliani R et al.
Orphanet Journal of Rare Diseases, 2021
Epidemiology of Mucopolysaccharidoses Update.
Çelik B et al.
Diagnostics (basel, Switzerland), 2021
First Report of a Patient with MPS Type VII, Due to Novel Mutations in GUSB, Who Underwent Enzyme Replacement and Then Hematopoietic Stem Cell Transplantation.
Dubot P et al.
International Journal of Molecular Sciences, 2019
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
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
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
Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders.
Fernández-Marmiesse A et al.
Orphanet Journal of Rare Diseases, 2014
Human β-glucuronidase: structure, function, and application in enzyme replacement therapy.
Naz H et al.
Rejuvenation Research, 2013
Glycosaminoglycan storage disorders: a review.
Coutinho MF et al.
Biochemistry Research International, 2012
Mutations and polymorphisms in GUSB gene in mucopolysaccharidosis VII (Sly Syndrome).
Tomatsu S et al.
Human Mutation, 2009
Lysosomal storage disorders in the newborn.
Staretz-Chacham O et al.
Pediatrics, 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
Missense models [Gustm(E536A)Sly, Gustm(E536Q)Sly, and Gustm(L175F)Sly] of murine mucopolysaccharidosis type VII produced by targeted mutagenesis.
Tomatsu S et al.
Proceedings of the National Academy of Sciences of the United States of America, 2002
Engraftment of genetically engineered amniotic epithelial cells corrects lysosomal storage in multiple areas of the brain in mucopolysaccharidosis type VII mice.
Kosuga M et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy, 2001
Structural features of normal and mutant human lysosomal glycoside hydrolases deduced from bioinformatics analysis.
Durand P et al.
Human Molecular Genetics, 2000
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
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
Four novel mutations in mucopolysaccharidosis type VII including a unique base substitution in exon 10 of the beta-glucuronidase gene that creates a novel 5'-splice site.
Yamada S et al.
Human Molecular Genetics, 1995
Overexpression rescues the mutant phenotype of L176F mutation causing beta-glucuronidase deficiency mucopolysaccharidosis in two Mennonite siblings.
Wu BM et al.
The Journal of Biological Chemistry, 1994
The Spectrum of Movement Disorders in Childhood-Onset Lysosomal Storage Diseases.
Ebrahimi-Fakhari D et al.
Movement Disorders Clinical Practice, 0
[Ultrastructure of skin fibroblasts in storage diseases (mucopolysaccharidosis types IV and VI)].
Bruskina VIa et al.
Tsitologiia I Genetika, 0