Article

The Natural History of Infantile Neuroaxonal Dystrophy

2020-03-03

Abstract excerpt

<title>Abstract</title> <p>Background Infantile neuroaxonal dystrophy (INAD) is a rapidly progressive neurodegenerative disorder of early onset causing premature death. It results from biallelic pathogenic variants in PLA2G6 , which encodes a calcium‐independent phospholipase A2. Objective We aim to outline the natural history of INAD and provide a comprehensive description of its clinical, radiological, laborato...

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Literature Corpus work: e217bc8a-2e9c-5ec7-8036-81c4365f49f7
DOI: 10.21203/rs.2.19797/v2

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