Effectiveness of early hematopoietic stem cell transplantation in preventing neurocognitive decline in aspartylglucosaminuria: A case series

Effectiveness of early hematopoietic stem cell transplantation in preventing neurocognitive decline in aspartylglucosaminuria: A case series

Abstract Aspartylglucosaminuria (AGU) (OMIM #208400) is a recessively inherited disorder of glycoprotein catabolism, a subset of the lysosomal storage disorders (LSDs). Deficiency of the enzyme glycosylasparaginase (E.C. 3.5.1.26) leads to accumulation of aspartylglucosamine in various organs and it...

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Bibliographic Details
Main Authors: Arthavan Selvanathan, Jane Kinsella, Francesca Moore, Robert Wynn, Simon Jones, Peter J. Shaw, Bridget Wilcken, Kaustuv Bhattacharya
Format: Article
Language:English
Published: Wiley 2021-09-01
Series:JIMD Reports
Subjects:
aspartylglucosaminuria
inborn errors of metabolism
lysosomal storage disorders
stem cell transplantation
Online Access:https://doi.org/10.1002/jmd2.12222

Internet

https://doi.org/10.1002/jmd2.12222

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