[Current and new therapeutic options in inborn errors of metabolism].
Abstract
Inborn errors of metabolism (IEM) represent a vast group of orphan genetic disorders associated with enzyme deficiencies, substrates accumulation and products depletion. For several decades, the cornerstone of life-saving therapies in IEM was based on extreme manipulations of the nutritional intakes. Such outstanding dietary engineering is still relevant today, but new therapeutic avenues have emerged last years, based on better...
Paper Details
Title
[Current and new therapeutic options in inborn errors of metabolism].
Published Date
May 1, 2020
Journal
Volume
75
Issue
5-6
Pages
420 - 425
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History