Journal of inherited metabolic diseaseChildPreschoolHumansCord Blood Stem Cell TransplantationEarly Diagnosis
Failure of Allogeneic Transplant to Correct Sialidosis Despite Early Diagnosis and Full Donor Engraftment of Non-Carrier Leucocytes.
Nathan Jeffreys, Raheej Shamim Khan, Jane Kinsella, Robert Wynn, Simon Jones, Arunabha Ghosh, Heather Church, Karen Tylee, Vinod Sharma, Jane Ashworth
Published: 202610.1002/jimd.70135
Abstract
Sialidosis, also known as Mucolipidosis Type I, is a rare condition caused by defects in the NEU1 gene which causes the accumulation of sialylated peptides, oligosaccharides, and glycoproteins leading to neurological decline. Haematopoetic stem cell…
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