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

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

Abstract 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...

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Bibliographic Details
Main Authors: Francesca Furlan, Attilio Rovelli, Miriam Rigoldi, Mirella Filocamo, Barbara Tappino, Douglas Friday, Serena Gasperini, Silvana Mariani, Claudia Izzi, Maria Pia Bondioni, Cinzia Gellera, Anna Venerando, Nicoletta Villa, Maria del Carmen Rodriguez Perez, Fabio Pavan, Andrea Biondi, Rossella Parini
Format: Article
Language:English
Published: BMC 2018-11-01
Series:Italian Journal of Pediatrics
Subjects:
NIHF
Non-immune hydrops fetalis
LSDs
MPS VII
GUSB gene
Beta-glucuronidase
Online Access:http://link.springer.com/article/10.1186/s13052-018-0566-x

Internet

http://link.springer.com/article/10.1186/s13052-018-0566-x

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