3 Result(s)
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Article
Open AccessEfficacy confirmation study of aceneuramic acid administration for GNE myopathy in Japan
A rare muscle disease, GNE myopathy is caused by mutations in the GNE gene involved in sialic acid biosynthesis. Our recent phase II/III study has indicated that oral administration of aceneuramic acid to patient...
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Article
Open AccessThe impact of sirolimus therapy on lesion size, clinical symptoms, and quality of life of patients with lymphatic anomalies
Lymphatic anomalies (LAs) include several disorders in which abnormal lymphatic tissue invades the neck, chest, and various organs. Progressive cases may result in lethal outcomes and have proven difficult to ...
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Article
Open AccessPhase I clinical trial results of aceneuramic acid for GNE myopathy in Japan
GNE myopathy (distal myopathy with rimmed vacuoles) is a rare intractable muscle disease caused by the mutations in GNE gene, with no therapeutic agents at present. The mutations in GNE (UDP-N-acetylglucosamine 2...
