Adolescent-Onset and Adult-Onset Vitamin-Responsive Neurogenetic Diseases: A Review.
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DOI: 10.1001/jamaneurol.2020.4911
Abstract: Importance Vitamin-responsive inherited diseases are among the rare genetic disorders with a specific pharmacological treatment. Many of these conditions have a prominent neurological phenotype that is mainly reported in children. Being rare and often strikingly… read more here.
Keywords: vitamin responsive; neurogenetic diseases; adult onset; responsive neurogenetic ... See more keywords