Letter re: Acute intermittent porphyria-related leukoencephalopathy
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DOI: 10.1212/wnl.0000000000003624
Abstract: We read with interest the article by Kevelam et al.1 Current neurogenetic knowledge continues to grow with new genotypes associated with classical clinical syndromes and new phenotypes associated with shocking genetic and metabolic mechanisms, especially… read more here.
Keywords: letter acute; acute intermittent; intermittent; intermittent porphyria ... See more keywords
Author response: Acute intermittent porphyria-related leukoencephalopathy
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DOI: 10.1212/wnl.0000000000003625
Abstract: We thank Pinto et al. for their interest in our article on acute intermittent porphyria-related leukoencephalopathy.1 We agree that with the identification of this family, 3 clinical syndromes associated with HMBS mutations are distinguishable. It… read more here.
Keywords: related leukoencephalopathy; porphyria related; acute intermittent; intermittent porphyria ... See more keywords