Hematopoietic cell transplantation for sialidosis type I

Ashish O. Gupta; Marc C. Patterson; Tim Wood; Julie B. Eisengart; Paul J. Orchard; Troy C. Lund

doi:10.1016/j.ymgmr.2021.100832

Hematopoietic cell transplantation for sialidosis type I

Ashish O. Gupta, Marc C. Patterson, Tim Wood, Julie B. Eisengart, Paul J. Orchard, Troy C. Lund

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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.

Original language	English (US)
Article number	100832
Journal	Molecular Genetics and Metabolism Reports
Volume	30
DOIs	https://doi.org/10.1016/j.ymgmr.2021.100832
State	Published - Mar 2022

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© 2021 The Authors

Keywords

Blood and marrow transplantation
Cherry-red spot myoclonus syndrome
Hematopoietic cell transplantation
Sialidosis, type I

PubMed: MeSH publication types

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title = "Hematopoietic cell transplantation for sialidosis type I",

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.",

keywords = "Blood and marrow transplantation, Cherry-red spot myoclonus syndrome, Hematopoietic cell transplantation, Sialidosis, type I",

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AU - Patterson, Marc C.

AU - Wood, Tim

AU - Eisengart, Julie B.

AU - Orchard, Paul J.

AU - Lund, Troy C.

PY - 2022/3

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N2 - 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.

AB - 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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KW - Cherry-red spot myoclonus syndrome

KW - Hematopoietic cell transplantation

KW - Sialidosis, type I

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Hematopoietic cell transplantation for sialidosis type I

Abstract

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