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Article

Thirty-year clinical outcomes after haematopoietic stem cell transplantation in neuronopathic Gaucher disease

18 Jun 2022

Abstract excerpt

BACKGROUND: Neuronopathic Gaucher Disease (nGD) describes the condition of a subgroup of patients with the Lysosomal Storage Disorder (LSD), Gaucher disease with involvement of the central nervous system (CNS) which results from inherited deficiency of β-glucosylceramidase. Although systemic manifestations of disease are now corrected by augmentation with macrophage-targeted therapeutic enzyme (enzyme replacement...

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PMID: 35717194
DOI: 10.1186/s13023-022-02378-7

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