Associated Papers
Lysosomal storage disorders in nonimmune hydrops fetalis diagnosed by exome sequencing.
Makhamreh MM et al.
Orphanet Journal of Rare Diseases, 2025
Lethal variants in humans: lessons learned from a large molecular autopsy cohort.
Shamseldin HE et al.
Genome Medicine, 2021
34645488 (PubMed )
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Epidemiology of Mucopolysaccharidoses Update.
Çelik B et al.
Diagnostics (basel, Switzerland), 2021
Epidemiology of mucopolysaccharidoses.
Khan SA et al.
Molecular Genetics and Metabolism, 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
Identification of embryonic lethal genes in humans by autozygosity mapping and exome sequencing in consanguineous families.
Shamseldin HE et al.
Genome Biology, 2015
Mutations and polymorphisms in GUSB gene in mucopolysaccharidosis VII (Sly Syndrome).
Tomatsu S et al.
Human Mutation, 2009
The structure of bovine lysosomal alpha-mannosidase suggests a novel mechanism for low-pH activation.
Heikinheimo P et al.
Journal of Molecular Biology, 2003
Structural features of normal and mutant human lysosomal glycoside hydrolases deduced from bioinformatics analysis.
Durand P et al.
Human Molecular Genetics, 2000
Active site residues of human beta-glucuronidase. Evidence for Glu(540) as the nucleophile and Glu(451) as the acid-base residue.
Islam MR et al.
The Journal of Biological Chemistry, 1999
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
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