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 o...

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Detalles Bibliográficos
Autores principales: Gupta, Ashish O., Patterson, Marc C., Wood, Tim, Eisengart, Julie B., Orchard, Paul J., Lund, Troy C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Short Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8856904/
https://www.ncbi.nlm.nih.gov/pubmed/35242566
http://dx.doi.org/10.1016/j.ymgmr.2021.100832
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author Gupta, Ashish O.
Patterson, Marc C.
Wood, Tim
Eisengart, Julie B.
Orchard, Paul J.
Lund, Troy C.
author_facet Gupta, Ashish O.
Patterson, Marc C.
Wood, Tim
Eisengart, Julie B.
Orchard, Paul J.
Lund, Troy C.
author_sort Gupta, Ashish O.
collection PubMed
description 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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spelling pubmed-88569042022-03-02 Hematopoietic cell transplantation for sialidosis type I Gupta, Ashish O. Patterson, Marc C. Wood, Tim Eisengart, Julie B. Orchard, Paul J. Lund, Troy C. Mol Genet Metab Rep Short Communication 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. Elsevier 2021-12-08 /pmc/articles/PMC8856904/ /pubmed/35242566 http://dx.doi.org/10.1016/j.ymgmr.2021.100832 Text en © 2021 The Authors https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Short Communication
Gupta, Ashish O.
Patterson, Marc C.
Wood, Tim
Eisengart, Julie B.
Orchard, Paul J.
Lund, Troy C.
Hematopoietic cell transplantation for sialidosis type I
title Hematopoietic cell transplantation for sialidosis type I
title_full Hematopoietic cell transplantation for sialidosis type I
title_fullStr Hematopoietic cell transplantation for sialidosis type I
title_full_unstemmed Hematopoietic cell transplantation for sialidosis type I
title_short Hematopoietic cell transplantation for sialidosis type I
title_sort hematopoietic cell transplantation for sialidosis type i
topic Short Communication
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8856904/
https://www.ncbi.nlm.nih.gov/pubmed/35242566
http://dx.doi.org/10.1016/j.ymgmr.2021.100832
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AT orchardpaulj hematopoieticcelltransplantationforsialidosistypei
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