The natural history of infantile neuroaxonal dystrophy
Abstract
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, laboratory, and molecular findings. Materials and methods We...
Paper Details
Title
The natural history of infantile neuroaxonal dystrophy
Published Date
May 1, 2020
Volume
15
Issue
1
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Notes
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