A new case report of severe mucopolysaccharidosis type VII: diagnosis, treatment with haematopoietic cell transplantation and prenatal diagnosis in a second pregnancy

A new patient with severe mucopolysaccharidosis (MPS) type VII is reported. Non-immune hydrops fetalis (NIHF) was diagnosed during pregnancy. At birth, he showed generalized hydrops and dysmorphic features typical of MPS. Many diagnoses were excluded before reaching the diagnosis of MPS VII at 8 mon...

Descripción completa

Detalles Bibliográficos
Autores principales: Furlan, Francesca, Rovelli, Attilio, Rigoldi, Miriam, Filocamo, Mirella, Tappino, Barbara, Friday, Douglas, Gasperini, Serena, Mariani, Silvana, Izzi, Claudia, Bondioni, Maria Pia, Gellera, Cinzia, Venerando, Anna, Villa, Nicoletta, del Carmen Rodriguez Perez, Maria, Pavan, Fabio, Biondi, Andrea, Parini, Rossella
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6238262/
https://www.ncbi.nlm.nih.gov/pubmed/30442200
http://dx.doi.org/10.1186/s13052-018-0566-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6238262/
https://www.ncbi.nlm.nih.gov/pubmed/30442200
http://dx.doi.org/10.1186/s13052-018-0566-x

Ejemplares similares