Statistical Permutation Test Reveals Progressive and Region-Specific Iron Accumulation in the Thalami of Children with Aspartylglucosaminuria

Statistical Permutation Test Reveals Progressive and Region-Specific Iron Accumulation in the Thalami of Children with Aspartylglucosaminuria

Aspartylglucosaminuria (AGU) is a rare lysosomal storage disorder causing developmental delay, intellectual disability, and eventual death. A distinct feature in AGU is iron accumulation within the thalamus. Our aim is to demonstrate that susceptibility-weighted images (SWI) could be used as an MRI...

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Bibliographic Details
Main Authors: Viljami Sairanen, Anna Tokola, Ritva Tikkanen, Minna Laine, Taina Autti
Format: Article
Language:English
Published: MDPI AG 2020-09-01
Series:Brain Sciences
Subjects:
aspartylglucosaminuria
aspartylglucosaminidase
magnetic resonance imaging
susceptibility-weighted imaging
medical image analysis
gene therapy
Online Access:https://www.mdpi.com/2076-3425/10/10/677

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https://www.mdpi.com/2076-3425/10/10/677

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