A clinical case of X-linked adrenoleukodystrophy in a 9-year-old boy

X-linked adrenoleukodystrophy belongs to peroxisomal disorders characterized by combined damage to the nervous system and adrenal glands and often leading to death. This hereditary disease results in mutations in the ABCD1 gene, leading to ineffective β-oxidation of fatty acids following a decrease...

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Bibliographic Details
Main Authors: Ya. V. Girsh, K. A. Yakimova
Format: Article
Language:English
Published: Siberian State Medical University (Tomsk) 2022-04-01
Series:Бюллетень сибирской медицины
Subjects:
Online Access:https://bulletin.ssmu.ru/jour/article/view/4715