Hematopoietic cell transplantation for sialidosis type I.

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. © 2021 The Authors.

Citation

Ashish O Gupta, Marc C Patterson, Tim Wood, Julie B Eisengart, Paul J Orchard, Troy C Lund. Hematopoietic cell transplantation for sialidosis type I. Molecular genetics and metabolism reports. 2022 Mar;30:100832

PMID: 35242566

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