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alpha mannosidase/edema
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An autophagic vacuolar myopathy-like disorder presenting as nonimmune hydrops in a female fetus.
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A 37-year-old woman presented for routine obstetrical care at 15 weeks' gestational age and the fetus was found to have hydrops fetalis. Following elective termination of the pregnancy at 18 weeks' gestational age, pathologic examination of the female conceptus revealed findings suggestive of a
Phase IB clinical trial of the oligosaccharide processing inhibitor swainsonine in patients with advanced malignancies.
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The indolizidine alkaloid swainsonine, a potent inhibitor of Golgi alpha-mannosidase II, has been shown to reduce tumor cell metastasis, enhance cellular immune responses, and reduce solid tumor growth in mice. In our previous Phase I study, swainsonine administered by 5-day continuous infusion
Genetic-Variation-Driven Gene-Expression Changes Highlight Genes with Important Functions for Kidney Disease.
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Chronic kidney disease (CKD) is a complex gene-environmental disease affecting close to 10% of the US population. Genome-wide association studies (GWASs) have identified sequence variants, localized to non-coding genomic regions, associated with kidney function. Despite these robust observations,
A phase I study of swainsonine in patients with advanced malignancies.
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Swainsonine, an alpha-mannosidase inhibitor which blocks Golgi oligosaccharide processing, represents a new class of compounds that inhibit both rate of tumor growth, and metastasis, in murine experimental tumor models. In this first phase I study, the quantitative and qualitative toxicities of
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