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未被诊断成年人的表型具有可起诉的OTC和GLA变体

Jessica I Gold1, Sarina Madhavan2,3, Joseph Park4

  • 1Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia; Philadelphia, PA, USA.

HGG advances
|August 18, 2023
PubMed
概括

一种基因型第一方法确定了罕见的未被诊断的遗传代谢障碍 (IMD),如法布里病和甲酸转糖酶缺乏症. 这种方法有助于早期检测和改善这些遗传疾病的患者护理.

关键词:
费布里病是什么意思 费布里病是什么意思基因组新生儿查 基因组新生儿查基因组返回结果的结果.基因型第一方法.医院生物银行遗传性代谢障碍是一种遗传性代谢障碍.甲基尼丁转糖胺酶 (OTC) 缺乏症透性 透性 透性二次发现 二次发现可变的表达性变量.

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