Biochemical and clinical response after umbilical cord blood transplant in a boy with early childhood‐onset beta‐mannosidosis

BACKGROUND: Deficiency in the enzyme β‐mannosidase was described over three decades ago. Although rare in occurrence, the presentation of childhood‐onset β‐mannosidase deficiency consists of hypotonia in the newborn period followed by global development delay, behavior problems, and intellectual dis...

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Detalles Bibliográficos
Autores principales: Lund, Troy C., Miller, Weston P., Eisengart, Julie B., Simmons, Katrina, Pollard, Laura, Renaud, Deborah L., Wenger, David A., Patterson, Marc C., Orchard, Paul J
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6625138/
https://www.ncbi.nlm.nih.gov/pubmed/31115173
http://dx.doi.org/10.1002/mgg3.712

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6625138/
https://www.ncbi.nlm.nih.gov/pubmed/31115173
http://dx.doi.org/10.1002/mgg3.712

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