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Description of the molecular and clinical characteristics of the mucopolysaccharidosis type VII Iberian cohort by Gónzalez-Meneses, Antonio (author);Pineda, Mercè (author);Bandeira, Anabela (author);Janeiro, Patrícia (author);Ruiz, María Ángeles (author);Diogo, Luisa (author);Cancho-Candela, Ramón (author) is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.
What is Description of the molecular and clinical characteristics of the mucopolysaccharidosis type VII Iberian cohort about?
## Abstract ## Background Mucopolysaccharidosis type VII (Sly syndrome) is an ultra-rare neurometabolic disorder caused by inherited deficiency of the lysosomal enzyme β-glucuronidase. Precise data regarding its epidemiology are scarce, but birth prevalence is estimated to vary from 0.02 to 0.24 per 100,000 live births. The clinical course and disease progression are widely heterogeneous, but most patients have been reported to show signs such as skeletal deformities or cognitive delay. Additionally, detection criteria are not standardized, resulting in delayed diagnosis and treatment. ## Methods We present a cohort of 9 patients with mucopolysaccharidosis VII diagnosed in the Iberian Peninsula, either in Spain or Portugal. The diagnostic approach, genetic studies, clinical features, evolution and treatment interventions were reviewed. ## Results We found that skeletal deformities, hip dysplasia, hydrops fetalis, hepatosplenomegaly, hernias, coarse features, respiratory issues, and cognitive and growth delay were the most common features identified in the cohort. In general, patients with early diagnostic confirmation who received the appropriate treatment in a timely manner presen
Who reads Description of the molecular and clinical characteristics of the mucopolysaccharidosis type VII Iberian cohort?
It is typically read by researchers, students, and practitioners in Biochemistry, Genetics and Molecular Biology.
- Author
- Gónzalez-Meneses, Antonio (author);Pineda, Mercè (author);Bandeira, Anabela (author);Janeiro, Patrícia (author);Ruiz, María Ángeles (author);Diogo, Luisa (author);Cancho-Candela, Ramón (author)
- Publisher
- Springer Science and Business Media LLC
- Published
- 2021
- Language
- EN
- Field
- Biochemistry, Genetics and Molecular Biology (Life Sciences)