Works matching DE "MUCOPOLYSACCHARIDOSIS"

Exome Sequencing Identifies a Biallelic GALNS Variant (p.Asp233Asn) Causing Mucopolysaccharidosis Type IVA in a Pakistani Consanguineous Family.

Published in:

2022

By:

• Ghafoor, Saima;
• Silveira, Karina da Costa;
• Qamar, Raheel;
• Azam, Maleeha;
• Kannu, Peter

Publication type:

Case Study