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A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
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儿童和青少年的诊断奥德赛与X链接的低血症:基于人口的,病例对照研究研究

Freya Boardman-Pretty1, Ashley Kieran Clift1, Hadley Mahon1

  • 1Mendelian, London, EC1V 9EY, UK.

The Journal of clinical endocrinology and metabolism
|February 9, 2024
PubMed
概括

在儿童中,X链接低血症 (XLH) 诊断往往会延迟. 在诊断之前,英国初级保健电子健康记录中记录的关键临床特征,如恶心病和低酸盐,不足.

关键词:
与X相关的低酸血症.电子医疗记录 电子医疗记录主要护理是一级医疗保健.

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