A Tanzanian Boy with Molecularly Confirmed X-Linked Adrenoleukodystrophy.
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ABSTRACT:
SUBMITTER: Dekker MCJ
PROVIDER: S-EPMC7011349 | biostudies-literature | 2019
REPOSITORIES: biostudies-literature
Publications
A Tanzanian Boy with Molecularly Confirmed X-Linked Adrenoleukodystrophy.
Dekker M C J MCJ Sadiq A M AM Mc Larty R R Mbwasi R M RM Willemsen M A A P MAAP Waterham H R HR Hamel B C BC
Case reports in genetics 20191231
Adrenoleukodystrophy (ALD) is an X-linked peroxisomal disorder with classical features, which can be also recognised in a low resource setting. It had been described in various populations across the globe, but very few cases have been reported from Africa. In a boy with features of a progressive central nervous system condition and adrenal failure, <i>ABCD1</i> gene screening was performed based on a clinical history and basic radiological features which were compatible with ALD. A common <i>AB ...[more]
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