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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Publicat a:Mol Genet Genomic Med
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: John Wiley and Sons Inc. 2019
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Original Articles
Accés en línia: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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