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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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Detalhes bibliográficos
Publicado no:Mol Genet Genomic Med
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2019
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6625138/
https://ncbi.nlm.nih.gov/pubmed/31115173
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.712
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