HETEROZYGOTE CYSTATHIONINE B SYNTHASE DEFICIENCY

杂合子胱硫醚 B 合酶缺乏症

• 批准号: 6113181
• 负责人: ANITA M BODDIE
• 金额: $ 3.88万
• 依托单位: EMORY UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 1998
• 资助国家: 美国
• 起止时间: 1998-12-01 至 1999-11-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6113181
• 关键词: biomarker; blood chemistry; clinical research; cysteine; folate; heterozygote; homocystinuria; human data; human subject

This is a pilot study to determine whether TPH/plasma folate and TPH/total plasma cysteine) can discriminate heterozygosity for cystathionine B-synthase deficiency. In addition, plasma folate and red blood cell folate values of patients who have cystathionine B-synthase deficiency will be compared to the NHANES II national averages.

这是一项初步研究，以确定TPH/血浆叶酸和TPH/总血浆半胱氨酸）是否可以区分胱硫醚B-合酶缺乏症的杂合性。 此外，血浆叶酸和红细胞叶酸值的患者谁有胱硫醚B-合成酶缺乏症将比较NHANES II全国平均水平。