维普中文期刊产品整合服务
17篇 您的检索式:作者名="Olpin SE"
    题名 作者 年代 出处 被引量
1ETFDH mutations as amajor cause of riboflavin - responsive multiple acyl - CoA dehydro - genation deficiency显示文摘Olsen RK Olpin SE Andresen BS 2007Brain2007,130,:1
2OCTN2 mutation (R254X) found in Saudi Arabian kindred: recurrent mutation or ancient founder mutation? 显示文摘Lamhonwah AM Onizuka R Olpin SE 2004J Inherit Metab Dis2004,27,:1
3ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency 显示文摘Olsen RK Olpin SE Andresen BS 2007Brain2007,130,8:1
42-methyl-3-hydroxybutyryl- CoA dehydrogenase deficiency in a 23-year-old man 显示文摘Olpin SE Pollitt ILl McMenamin J 2002J Inherit Metab Dis2002,25,6:1
5Mental retardation linked to mutations in the HSD17BIO gene interfering with neurosteroid and isoleucine metabolism 显示文摘Yang SY He XY Olpin SE 2009Proc Natl Acad Sci USA2009,106,14:1
6Mutation and biochemical analysis in carnitine palmitoyltransferase type Ⅱ (CPT Ⅱ)deficiency显示文摘Olpin SE Afifi A Clark S 2003J Inherit Metab Dis2003,26,6:1
7Mental retardation linked to mutations in the HSD17B10 gene interfering with neurosteroid and isoleucine metabolism 显示文摘Yang SY He XY Olpin SE 2009Proc Natl Acad Sci USA2009,106,14:1
8ETFDH mutations as a major cause of riboflavin - responsive multiple acyl - CoA dehydrogenation de- ficiency显示文摘Olsen RK Olpin SE Andresen BS 2007Brain2007,130,8:1
9ETFDH mutationsas a major cause of riboflavin-responsive multiple acyl-CoAdehydrogenation deficiency显示文摘Olsen RK Olpin SE Andresen BS 2007Brain2007,130,:1
10ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydro- genation deficiency显示文摘Olsen RK Olpin SE Andresen BS 2007Brain2007,1308,:1
11Phosphoserine aminotransferase deficiency: a novel disorder of the serine biosynthesis pathway显示文摘Hart CE Race V Achouri Y Wiame E Sharrard M Olpin SE 2007Am J Hum Genet2007,80,5:1
12Novel OCTN2 mutations: no genotype-phenotype correlations: early carnitine therapy prevents cardiomyopathy 显示文摘Lamhonwah AM Olpin SE Pollitt RJ 2002Am J Med Genet2002,111,3:1
13ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency显示文摘Olsen RK Olpin SE Andresen BS 2007Brain2007,130,:1
14Novel OCTN2mutations: no genotype-phenotype correlations: early carnitinetherapy prevents cardiomyopathy 显示文摘Lamhonwah AM Olpin SE Pollitt RJ 2002Am J Med Genet2002,111,3:1
15Novel OCTN2 mutations : no genotype-phenotype correlations: early earnitine therapy prevents eardiomyopathy显示文摘Lamhonwah AM Olpin SE Pollitt RJ 2002Am J Med Genet2002,111,:1
16Novel OCTN2 mutations:No genotype-phenotype correlations:Early carnitine therapy prevents cardiomyopathy显示文摘Lamhonwah AM Olpin SE Pollitt RJ 2002Am J Med Genet2002,111,:1
17Cholestatic jaundice associated with carnitine palmitoyhransferase IA deficiency显示文摘Morris AA Olpin SE Bennett M J 2013JIMD Rep2013,7,:1
返回顶部 每页显示:
共1页 首页 上一页 第1页 下一页 末页 /1 跳转

网站首页 | 关于我们 | 联系我们 | 产品服务 | 客服中心 | 广告服务 | 版权声明 | 网站联盟 | 友情链接 | 售卡网点

版权所有© 渝B2-20050021-1 渝公网安备 50019002500403号 违法和不良信息举报中心

互联网出版许可证 新出网证(渝)字10号 全国400电话 - 免长途话费