"Brainstem dominant form of X‐linked adrenoleukodystrophy with a novel ABCD1 missense variant: A case report and literature review"

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X‐linked adrenoleukodystrophy (X‐ALD) is the most common peroxisomal disorder attributed to ABCD1 mutations. Case reports with predominant brainstem involvement are rare. Click to show full abstract

X‐linked adrenoleukodystrophy (X‐ALD) is the most common peroxisomal disorder attributed to ABCD1 mutations. Case reports with predominant brainstem involvement are rare.

Keywords: dominant form; case; adrenoleukodystrophy; brainstem dominant; linked adrenoleukodystrophy

Journal Title: Molecular Genetics & Genomic Medicine
Year Published: 2024

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