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dc.creatorGonzález-Meneses López, Antonioes
dc.creatorPineda, Mercèes
dc.creatorBandeira, Anabelaes
dc.creatorJaneiro, Patríciaes
dc.creatorRuiz, María Ángeleses
dc.creatorDiogo, Luisaes
dc.creatorCancho-Candela, Ramónes
dc.date.accessioned2022-11-07T19:20:28Z
dc.date.available2022-11-07T19:20:28Z
dc.date.issued2021-10-22
dc.identifier.citationGonzález-Meneses López, A., Pineda, M., Bandeira, A., Janeiro, P., Ruiz, M.Á., Diogo, L. y Cancho-Candela, R. (2021). Description of the molecular and clinical characteristics of the mucopolysaccharidosis type VII Iberian cohort. Orphanet Journal of Rare Diseases, 16 (1), 445. https://doi.org/10.1186/s13023-021-02063-1.
dc.identifier.issn1750-1172es
dc.identifier.urihttps://hdl.handle.net/11441/139103
dc.description.abstractBackground 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 presented a more favorable clinical evolution. Conclusions This case series report helps to improve understanding of this ultra-rare disease and allows to establish criteria for clinical suspicion or diagnosis, recommendations, and future directions for better management of patients with Sly syndrome.es
dc.formatapplication/pdfes
dc.format.extent9 p.es
dc.language.isoenges
dc.publisherBMCes
dc.relation.ispartofOrphanet Journal of Rare Diseases, 16 (1), 445.
dc.rightsAtribución 4.0 Internacional*
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/*
dc.subjectMucopolysaccharidosises
dc.subjectSly syndromees
dc.subjectRare diseasees
dc.subjectMPS VIIes
dc.titleDescription of the molecular and clinical characteristics of the mucopolysaccharidosis type VII Iberian cohortes
dc.typeinfo:eu-repo/semantics/articlees
dc.type.versioninfo:eu-repo/semantics/publishedVersiones
dc.rights.accessRightsinfo:eu-repo/semantics/openAccesses
dc.contributor.affiliationUniversidad de Sevilla. Departamento de Farmacología, Pediatría y Radiologíaes
dc.relation.publisherversionhttps://ojrd.biomedcentral.com/articles/10.1186/s13023-021-02063-1es
dc.identifier.doi10.1186/s13023-021-02063-1es
dc.journaltitleOrphanet Journal of Rare Diseaseses
dc.publication.volumen16es
dc.publication.issue1es
dc.publication.initialPage445es

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