Spastic paraplegia as the predominant phenotype in a cohort of Chinese patients with adrenoleukodystrophy
Abstract Background X‐linked adrenoleukodystrophy (ALD) is one of the most common peroxisomal disorders characterized by abnormal accumulation of very long‐chain fatty acids (VLCFA) in plasma and tissues and caused by mutations within ABCD1. Clinically, ALD present with various phenotypes, ranging f...
Main Authors: | , , , , , |
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Format: | Article |
Language: | English |
Published: |
Wiley
2020-01-01
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Series: | Molecular Genetics & Genomic Medicine |
Subjects: | |
Online Access: | https://doi.org/10.1002/mgg3.1065 |