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The attitudes of families toward the treatment of HT-1 following the diagnosis of HT-1 by NBS are considered by the authors to be an important focus of research and surveillance

Usually refers to reduced glutathione (GSH), a tripeptide composed of glutamic acid, cysteine and glycine, which is a naturally occurring antioxidant in cells

It has similar effect as U18666A on blocking the cholesterol transport out of the lysosomes, which is mediated through its binding to NPC1 in the same binding pocket on the sterol sensing domain as U18666A [45]

One of the projects milestones was the first thematic seminar, Framing the Community of Practice, held in Rome