Hematopoietic cell transplantation for sialidosis type I.
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ABSTRACT:
SUBMITTER: Gupta AO
PROVIDER: S-EPMC8856904 | biostudies-literature | 2022 Mar
REPOSITORIES: biostudies-literature
Publications
Hematopoietic cell transplantation for sialidosis type I.
Gupta Ashish O AO Patterson Marc C MC Wood Tim T Eisengart Julie B JB Orchard Paul J PJ Lund Troy C TC
Molecular genetics and metabolism reports 20211208
We report the clinical and laboratory follow-up data of an adolescent female with Type I Sialidosis who underwent bone marrow transplant (BMT). After BMT, plasma and urine biomarkers responded concurrently with engraftment. Neuropsychiatry data showed preservation in some domains, but she did have overall decline in motor performance. Sialidosis is a very rare lysosomal condition, and we believe this to be the first report of a case of Type I Sialidosis undergoing BMT. ...[more]
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