TY - JOUR A2 - Royo, Jose Luis AU - Dekker, M. C. J. AU - Sadiq, A. M. AU - Mc Larty, R. AU - Mbwasi, R. M. AU - Willemsen, M. A. A. P. AU - Waterham, H. R. AU - Hamel, B. C. PY - 2019 DA - 2019/12/31 TI - A Tanzanian Boy with Molecularly Confirmed X-Linked Adrenoleukodystrophy SP - 6148425 VL - 2019 AB - 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根据临床病史，哪些是与ALD兼容基本的影像学特征进行基因筛查。普通的 ABCD1突变在这名患者，这是遗传证实ALD在撒哈拉以南非洲的第一份报告被确定。ALD很可能下在没有神经学家这些地区的认可。这种遗传确认拓宽了地理分布 ABCD1相关疾病，并说明这种疾病的可识别性，在低资源环境中遇到的也是如此。SN - 2090-6544 UR - https://doi.org/10.1155/2019/6148425 DO - 10.1155 /六百一十四万八千四百二十五分之二千〇一十九JF - 病例报告遗传学PB - Hindawi出版KW - ER -