Associated Papers
Exploration of calcium and amino acids for children with primary cardiomyopathies based on genetic characteristics.
Jiang S et al.
Frontiers in Pediatrics, 2025
41341110 (PubMed )
Supplement: Datasheet1.xlsx › Supplementary_Table_S1
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
First Report on Fetal Cerebral Polyglucosan Bodies in Mucopolysaccharidosis Type VII.
Kadhim H et al.
Case Reports in Pediatrics, 2017
Large proteoglycan complexes and disturbed collagen architecture in the corneal extracellular matrix of mucopolysaccharidosis type VII (Sly syndrome).
Young RD et al.
Investigative Ophthalmology & Visual Science, 2011
Mutations and polymorphisms in GUSB gene in mucopolysaccharidosis VII (Sly Syndrome).
Tomatsu S et al.
Human Mutation, 2009
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
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