Cardiac disease as the presenting feature of mucopolysaccharidosis type IIIA: A case report

Severe cardiac involvement is a common feature of mucopolysaccharidoses (MPS), but occurs only rarely in MPS III (Sanfilippo syndrome). We report herein a case of MPS III-A having cardiac involvement as its first manifestation. Analysis of the SGSH gene showed homozygosity for the novel mutation p.G...

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Detalles Bibliográficos
Autores principales: Ribeiro, Erlane Marques, Brusius-Facchin, Ana Carolina, Leistner-Segal, Sandra, da Silva, Carlos Antônio Bruno, Schwartz, Ida Vanessa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5121363/
https://www.ncbi.nlm.nih.gov/pubmed/27896117
http://dx.doi.org/10.1016/j.ymgmr.2014.09.003

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5121363/
https://www.ncbi.nlm.nih.gov/pubmed/27896117
http://dx.doi.org/10.1016/j.ymgmr.2014.09.003

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