Diagnostic imaging and biochemical findings of rare inherited X-linked adrenoleukodystrophy in a child

Diagnostic imaging and biochemical findings of rare inherited X-linked adrenoleukodystrophy in a child

Introduction. Adrenoleukodystrophy (ALD) is a rare genetic disease, caused by mutations in ABCD1 gene located on the X chromosome (X-ALD), underdiagnosed worldwide. Case Outline. We present a clinical case of a six-year-old boy with childhood cerebral X-ALD. Magnetic resonance imaging of the patient...

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Bibliographic Details
Main Authors: Serapinas Danielius, Bartkeviciene Daiva, Valantinaviciene Emilija, Bandzeviciene Rita, Pukinskaite Ruta, Staikuniene Jurate, Asmoniene Virginija
Format: Article
Language:English
Published: Serbian Medical Society 2017-01-01
Series:Srpski Arhiv za Celokupno Lekarstvo
Subjects:
X-linked adrenoleukodystrophy
fatty acids
MRI
Online Access:http://www.doiserbia.nb.rs/img/doi/0370-8179/2017/0370-81791700050S.pdf

Internet

http://www.doiserbia.nb.rs/img/doi/0370-8179/2017/0370-81791700050S.pdf

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