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

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 its excreti...

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Detalles Bibliográficos
Autores principales: Selvanathan, Arthavan, Kinsella, Jane, Moore, Francesca, Wynn, Robert, Jones, Simon, Shaw, Peter J., Wilcken, Bridget, Bhattacharya, Kaustuv
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2021
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8411101/
https://www.ncbi.nlm.nih.gov/pubmed/34485011
http://dx.doi.org/10.1002/jmd2.12222

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8411101/
https://www.ncbi.nlm.nih.gov/pubmed/34485011
http://dx.doi.org/10.1002/jmd2.12222

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