An open-label, noncomparative study of miglustat in type I Gaucher disease: Efficacy and tolerability over 24 months of treatment*
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2023, MacSween's Pathology of the Liver, Eighth EditionBone marrow burden score is not useful as a follow-up parameter in stable patients with type 1 Gaucher disease after 5 years of treatment
2021, Blood Cells, Molecules, and DiseasesCitation Excerpt :Nonetheless, we must highlight that none of the patients who were on SRT experienced any significant reduction in BMB during the first 24 months of treatment. This is consistent with the findings of Pastores et al. [28], who followed 10 patients on miglustat for 24 months and observed no changes in BMB score after treatment. Chitotriosidase activity correlated positively with BMB throughout the study period.
The future of newborn screening for lysosomal disorders
2021, Neuroscience LettersRare GBA1 genotype associated with severe bone disease in Gaucher disease type 1
2019, Molecular Genetics and Metabolism ReportsCitation Excerpt :Also, the pattern of decrease of the BMB score during treatment shows that patient 1, who was being treated with ERT for 24 months, presented a fast response with a significantly drop in the total score when compared to patient 2, who was beign treated with SRT for 24 months and only 1 month with ERT. This is in accordance with previous studies that have shown that BMB tend to decrease during the first years of ERT, but this cannot be observed with SRT, and, also, the response is not known to reflect disease severity [22,23]. At admission, neither patient was profoundly thrombocytopenic nor anemic.
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This work was presented as an abstract at the 54th Annual Meeting of the American Society of Human Genetics, October 26–30, 2004, Toronto, Canada.