Functional assessment of the genetic findings indicating mucopolysaccharidosis type II in the prenatal setting

Functional assessment of the genetic findings indicating mucopolysaccharidosis type II in the prenatal setting

Abstract Mucopolysaccharidosis type II (MPS II) is a multi‐systemic disorder arising due to pathogenic variants in the gene located on chromosome Xq28 encoding the lysosomal enzyme, iduronate 2‐sulfatase (IDS). The broad clinical heterogeneity of MPS II can be partly ascribed to the high level of mo...

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Bibliographic Details
Main Authors: Maria Fuller, David Ketteridge
Format: Article
Language:English
Published: Wiley 2021-07-01
Series:JIMD Reports
Subjects:
amniotic fluid
hunter syndrome
iduronate 2‐sulfatase
lysosomal storage disorder
mucopolysaccharidosis type II
prenatal diagnosis
Online Access:https://doi.org/10.1002/jmd2.12214

Internet

https://doi.org/10.1002/jmd2.12214

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