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

• Asıl Yazarlar: Francesca Furlan (Yazar), Attilio Rovelli (Yazar), Miriam Rigoldi (Yazar), Mirella Filocamo (Yazar), Barbara Tappino (Yazar), Douglas Friday (Yazar), Serena Gasperini (Yazar), Silvana Mariani (Yazar), Claudia Izzi (Yazar), Maria Pia Bondioni (Yazar), Cinzia Gellera (Yazar), Anna Venerando (Yazar), Nicoletta Villa (Yazar), Maria del Carmen Rodriguez Perez (Yazar), Fabio Pavan (Yazar), Andrea Biondi (Yazar), Rossella Parini (Yazar)
• Materyal Türü: Kitap
• Baskı/Yayın Bilgisi: BMC, 2018-11-01T00:00:00Z.
• Konular: article
• Online Erişim: Connect to this object online.

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...