Mass spectrometry and two-dimensional electrophoresis in prenatal diagnosis of mucopolysaccharidosis type VI

Mass spectrometry and two-dimensional electrophoresis in prenatal diagnosis of mucopolysaccharidosis type VI

Abstract Background Mucopolysaccharidosis VI (MPS VI) or Maroteaux–Lamy syndrome is an autosomal recessive lysosomal storage disorder. Clinical manifestations are related to progressive accumulation of dermatan sulfate (DS). Two-dimensional electrophoresis has traditionally been used for the diagnos...

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Bibliographic Details
Main Authors: Aly A. Aboulnasr, Khaled R. Gaber, Gamal Abdel Sameea, Amr S. Gouda, Mona M. Ibrahim, Taghreed A. Shalabi, Amr Elnouri
Format: Article
Language:English
Published: SpringerOpen 2022-02-01
Series:Egyptian Journal of Medical Human Genetics
Subjects:
Mass spectrometry (MS)
Two-dimensional electrophoresis (2-DEP)
Prenatal diagnosis of MPS VI
Amniocentesis
Online Access:https://doi.org/10.1186/s43042-022-00234-8

Internet

https://doi.org/10.1186/s43042-022-00234-8

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