Article

The Infantile Neuroaxonal Dystrophy Rating Scale (INAD-RS)

2020-06-05

Abstract excerpt

<title>Abstract</title> <p><bold>Background</bold>: INAD is an autosomal recessive neurogenetic disorder caused by biallelic pathogenic variants in <italic>PLA2G6</italic>. The downstream enzyme, iPLA<sub>2</sub>, plays a critical role in cell membrane homeostasis by helping to regulate levels of phospholipids. The clinical presentation occurs between 6 months and 3 years with global developmental regression, hyp...

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Literature Corpus work: 5b1c9ddb-04fb-5891-bbab-729cd8d79a22
DOI: 10.21203/rs.3.rs-25074/v2

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