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Article

Successful Treatment of Gaucher Disease With Matched Sibling Hematopoietic Stem Cell Transplantation: A Case Report and Literature Review.

Journal of pediatric hematology/oncology - 1 Nov 2021

Chavananon Shevachut, Sripornsawan Pornpun, Songthawee Natsaruth, Chotsampancharoen Thirachit

Abstract excerpt

BACKGROUND: Gaucher disease (GD) is the most common lysosomal storage disease and requires long-term enzyme replacement therapy (ERT), which is costly and inconvenient for resource-limited countries such as Thailand. The authors present the case of a 1-year-old boy who was diagnosed with GD type 1 with a homozygous mutation at c.1448 T>C (L444P). He was treated with ERT and matched sibling hematopoietic stem cell...

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Identifiers

PMID: 33661172
DOI: 10.1097/MPH.0000000000002129

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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