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Adrenoleukodystrophy: Symptoms, Treatment and Newborn Screening. Literature Review and Clinical Case

Adrenoleukodystrophy is a rare genetic disease which causes adrenal gland insufficiency and damages the nervous system. It is inherited through the X chromosome in a recessive manner. Due to the ABCD1 gene mutation, there is a disorder of peroxisomes, thus very long-chain fatty acids are not degrad...

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Bibliographic Details
Main Authors: Laura Regelskytė, Rūta Praninskienė
Format: Artigo
Language:Inglês
Published: Vilnius University Press 2024-12-01
Series:Neurologijos seminarai
Subjects:
Online Access:https://www.zurnalai.vu.lt/neurologijos_seminarai/article/view/38297
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