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Article

[X-linked adrenoleukodystrophy: A case of acute childhood cerebral presentation].

Andes pediatrica : revista Chilena de pediatria - 1 Aug 2021

Posada Bustos Sebastián, Charry Lopez Marco Luciano, Espinosa García Eugenia

Abstract excerpt

INTRODUCTION: X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disease due to a mutation in the ABCD1 gene that leads to the accumulation of very-long-chain fatty acids in tissues. OBJECTIVE: To describe one patient with severe childhood cerebral X-ALD and to analyze his diagnostic process and the rapeutic possibilities. CLINICAL CASE: 7-year-old male child, with a six-month history of decreased visual...

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PMID: 34652380
DOI: 10.32641/andespediatr.v92i4.3345

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