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33篇 您的检索式：作者名="OLPIN"

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	题名	作者	年代	出处	被引量
1	ETFDH mutations as amajor cause of riboflavin - responsive multiple acyl - CoA dehydro - genation deficiency显示文摘	Olsen RK Olpin SE Andresen BS	2007	Brain2007，130，：	1
2	Fatty acid oxidation defects as a cause of neuromyopathic disease in infants and adults显示文摘	Olpin S E Clark S Andresen B S	2005	Clin Lab2005，51，56：	1
3	Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency显示文摘	Andresen BS Olpin S Poorthuis BJ	1999	Am J Hum Genet1999，64，2：	1
4	Imaging of Müllerian Duct Anomalies显示文摘	JEFFREY DEE OLPIN MARTA HEILBRUN	2009	Clinical Obstetrics and Gynecology2009，，1：	1
5	Imaging of benign adnexal masses: characteristic presentations on ultrasound, computed tomography,and magnetic resonance imaging显示文摘	Heilbrun M E Olpin J Shaaban A	2009	Clin Obstet Gynecol2009，52，1：	1
6	OCTN2 mutation (R254X) found in Saudi Arabian kindred: recurrent mutation or ancient founder mutation? 显示文摘	Lamhonwah AM Onizuka R Olpin SE	2004	J Inherit Metab Dis2004，27，：	1
7	ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency 显示文摘	Olsen RK Olpin SE Andresen BS	2007	Brain2007，130，8：	1
8	2-methyl-3-hydroxybutyryl- CoA dehydrogenase deficiency in a 23-year-old man 显示文摘	Olpin SE Pollitt ILl McMenamin J	2002	J Inherit Metab Dis2002，25，6：	1
9	Clear correlation of genotype with disease phenotype in very-long-chain acyl- CoA dehydrogenase deficiency 显示文摘	Andresen BS Olpin S Poorthuis BJ	1999	Am J Hum Genet1999，64，2：	1
10	Mental retardation linked to mutations in the HSD17BIO gene interfering with neurosteroid and isoleucine metabolism 显示文摘	Yang SY He XY Olpin SE	2009	Proc Natl Acad Sci USA2009，106，14：	1
11	Mutation and biochemical analysis in carnitine palmitoyltransferase type Ⅱ (CPT Ⅱ)deficiency显示文摘	Olpin SE Afifi A Clark S	2003	J Inherit Metab Dis2003，26，6：	1
12	Novel OCTN2 mutations: nogenotype-phenotype correlations: Early camitine therapy prevents cardiomyopathy 显示文摘	LAMHONWAH A M OLPIN S E POLLITT R J	2002	Am J Med Genet2002，111，：	1
13	Mental retardation linked to mutations in the HSD17B10 gene interfering with neurosteroid and isoleucine metabolism 显示文摘	Yang SY He XY Olpin SE	2009	Proc Natl Acad Sci USA2009，106，14：	1
14	ETFDH mutations as a major cause of riboflavin - responsive multiple acyl - CoA dehydrogenation de- ficiency显示文摘	Olsen RK Olpin SE Andresen BS	2007	Brain2007，130，8：	1
15	Imaging of benign adnexal masses: characteristic presentations on ultrasound, computed tomography, and magnetic resonance imaging显示文摘	Heilbrun M E Olpin J Shaaban A	2009	Clin Obstet Gynecol2009，52，1：	1
16	ETFDH mutationsas a major cause of riboflavin-responsive multiple acyl-CoAdehydrogenation deficiency显示文摘	Olsen RK Olpin SE Andresen BS	2007	Brain2007，130，：	1
17	ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydro- genation deficiency显示文摘	Olsen RK Olpin SE Andresen BS	2007	Brain2007，1308，：	1
18	Imaging of Mullerian duct anomalies 显示文摘	Olpin JD Heilbrun M	2009	Clin Obstet Gynecol2009，52，：	1
19	Phosphoserine 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	2007	Am J Hum Genet2007，80，5：	1
20	Imaging of Miillerian duct anomalies显示文摘	Olpin J D Heilbrun M	2009	Clin Obstet Gynecol2009，52，1：	1

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