دورية أكاديمية
A Tanzanian Boy with Molecularly Confirmed X-Linked Adrenoleukodystrophy
| العنوان: | A Tanzanian Boy with Molecularly Confirmed X-Linked Adrenoleukodystrophy |
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| المؤلفون: | M. C. J. Dekker, A. M. Sadiq, R. Mc Larty, R. M. Mbwasi, M. A. A. P. Willemsen, H. R. Waterham, B. C. Hamel |
| المصدر: | Case Reports in Genetics, Vol 2019 (2019) |
| بيانات النشر: | Wiley, 2019. |
| سنة النشر: | 2019 |
| المجموعة: | LCC:Genetics |
| مصطلحات موضوعية: | Genetics, QH426-470 |
| الوصف: | 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, ABCD1 gene screening was performed based on a clinical history and basic radiological features which were compatible with ALD. A common ABCD1 mutation was identified in this patient, which is the first report of genetically confirmed ALD in Sub-Saharan Africa. ALD is likely under recognised in those areas where there is no neurologist. This genetic confirmation widens geographical distribution of ABCD1-associated disease, and illustrates recognisability of this disorder, even when encountered in a low-resource environment. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 2090-6544 2090-6552 |
| Relation: | https://doaj.org/toc/2090-6544; https://doaj.org/toc/2090-6552 |
| DOI: | 10.1155/2019/6148425 |
| URL الوصول: | https://doaj.org/article/10af2e8b1c1b4ed188eed8f1a5affa66 |
| رقم الأكسشن: | edsdoj.10af2e8b1c1b4ed188eed8f1a5affa66 |
| قاعدة البيانات: | Directory of Open Access Journals |
Full Text Finder | تدمد: | 20906544 20906552 |
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| DOI: | 10.1155/2019/6148425 |