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EFFECTS OF DIETARY CHOLESTEROL IN SMITH-LEMLI-OPITZ SYNDROME

EFFECTS OF DIETARY CHOLESTEROL IN SMITH-LEMLI-OPITZ SYNDROME
膳食胆固醇对史密斯-莱姆利-奥皮茨综合征的影响
批准号:
6116944
负责人:
WILLIAM E CONNOR
金额:
$3.13万
依托单位国家:
美国
项目类别:
财政年份:
1998
资助国家:
美国
项目状态:
已结题
起止时间:
1998-12-01 至 1999-11-30

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项目成果

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中文摘要
翻译
Smith-Lemli-Opitz综合征患者胆固醇缺乏 因为在胆固醇的合成中有一个障碍。 临床上, 他们患有小头畸形、智力迟钝和低渗,沿着 非常低的血浆胆固醇水平和高浓度的7- 脱氢胆固醇 这些研究涉及喂养饮食胆固醇, 缓解缺乏并阻断7- 脱氢胆固醇
英文摘要
Patients with the Smith-Lemli-Opitz syndrome have a cholesterol deficiency because there is a block in the synthesis of cholesterol. Clinically, they have microcephaly, mental retardation and hypotonicity, along with very low plasma cholesterol levels and high concentrations of 7- dehydrocholesterol. The studies involve feeding dietary cholesterol to alleviate the deficiency and to block biosynthesis of 7- dehydrocholesterol.
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