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Hematopoietic cell transplantation for sialidosis type I.
Gupta, Ashish O; Patterson, Marc C; Wood, Tim; Eisengart, Julie B; Orchard, Paul J; Lund, Troy C.
Affiliation
  • Gupta AO; Division of Pediatric Blood and Marrow Transplantation, University of Minnesota, Minneapolis, MN 55455, United States of America.
  • Patterson MC; Division of Child and Adolescent Neurology, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA.
  • Wood T; Biochemical Genetics Laboratory, Greenwood Genetic Center, Greenwood, SC 29646, United States of America.
  • Eisengart JB; Department of Pediatrics, Division of Clinical Behavioral Neuroscience, University of Minnesota, Minneapolis, MN, USA.
  • Orchard PJ; Division of Pediatric Blood and Marrow Transplantation, University of Minnesota, Minneapolis, MN 55455, United States of America.
  • Lund TC; Division of Pediatric Blood and Marrow Transplantation, University of Minnesota, Minneapolis, MN 55455, United States of America.
Mol Genet Metab Rep ; 30: 100832, 2022 Mar.
Article in En | MEDLINE | ID: mdl-35242566
ABSTRACT
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.
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Full text: 1 Collection: 01-internacional Database: MEDLINE Language: En Journal: Mol Genet Metab Rep Year: 2022 Document type: Article Affiliation country:
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Full text: 1 Collection: 01-internacional Database: MEDLINE Language: En Journal: Mol Genet Metab Rep Year: 2022 Document type: Article Affiliation country: