The infantile neuroaxonal dystrophy rating scale (INAD-RS)

The infantile neuroaxonal dystrophy rating scale (INAD-RS)

Abstract Background INAD is an autosomal recessive neurogenetic disorder caused by biallelic pathogenic variants in PLA2G6. The downstream enzyme, iPLA2, plays a critical role in cell membrane homeostasis by helping to regulate levels of phospholipids. The clinical presentation occurs between 6 mont...

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Bibliographic Details
Main Authors: Paldeep S. Atwal, Mark Midei, Darius Adams, Alexander Fay, Frederic Heerinckx, Peter Milner
Format: Article
Language:English
Published: BMC 2020-07-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Clinical outcome assessment (COA)
Infantile neuroaxonal dystrophy (INAD)
Infantile neuroaxonal dystrophy rating scale (INAD-RS)
PLA2G6-associated neurodegeneration (PLAN)
Online Access:http://link.springer.com/article/10.1186/s13023-020-01479-5

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http://link.springer.com/article/10.1186/s13023-020-01479-5

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