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46篇 您的检索式：作者名="Vockley"

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	题名	作者	年代	出处	被引量
1	Defects of mitochondrial beta-oxidation: a growing group of disorders 显示文摘	Vockley J Whiteman DA	2002	Neuromuscul Disord2002，12，3：	1
2	In vitro correction of medium chain acyl CoA dehydrogenase deficiency with a recombinant adenoviral vector 显示文摘	SCHOWALTER D B MATERN D VOCKLEY J	2005	Mol Genet Metab2005，85，2：	1
3	Different spectrum of mutations of isovaleryl-CoA dehydrogenase (IVD) gene in Korean patients with isovaleric acidemia 显示文摘	Lee YW Lee DH Vockley J	2007	Mol Genet Metab2007，92，12：	1
4	A common mutation is associated with a mild, potentially asympto- matic phenotype in patients with isovaleric acidemia diag- nosed by newborn screening 显示文摘	Ensenauer R Vockley J Willard JM	2004	Am J Hum Genet2004，75，6：	1
5	Phenylalanine hydroxylase deficiency:diagnosis and management guideline显示文摘	Vockley J Andersson HC Antshel KM	2014	Genet Med2014，16，：	1
6	A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening显示文摘	Ensenauer R Vockley J Willard JM	2004	Am J Hum Genet2004，75，6：	1
7	Synergisticheterozygosity: disease resulting from multiple partialdefects in one or more metabolic pathways显示文摘	Vockley J Rinaldo P Bennett M J	2000	Mol GenetMetab2000，71，12：	1
8	Glutaric aciduria type 2 and newborn screening: Commentary显示文摘	Jerry Vockley	2007	Molecular Genetics and Metabolism2007，，1：	1
9	Isovaleric acidemia:new aspects of genetic and phenotypic heterogeneity显示文摘	Vockley J Ensenauer R	2006	Am J Med Genet C Semin Med Genet2006，142，2：	1
10	Loss of function mutations in conserved regions of the human arginase I gene 显示文摘	Vockley JG Goodman BK Tabor DE	1996	Biochem Mol Med1996，59，1：	1
11	Phenylalanine hydroxylase deficiency:diagnosis and management guideline显示文摘	Vockley J Andersson HC Antshel KM	2014	Genet Med2014，16，：	1
12	Impaired tetramer assembly of variant medium chain acyl-CoA dehydrogenase with a glutamate or aspartate substitution for lysine-304 causing instability of the protein显示文摘	Yokota I Saijo T Vockley J	1992	J Biol Chem1992，267，26：	1
13	Exon skipping in IVD RNA processing in isovaleric acidemia caused by point mutations in the coding region of the IVD gene显示文摘	Vockley J Rogan PK Anderson BD	2000	Am J Hum Genet2000，66，2：	1
14	Different spectrum of mutations of isovaleryl-CoA dehydrogenase (IVD) gene in Korean patients with isovaleric acidemia显示文摘	Lee YW Lee DH Vockley J	2007	Mol Genet Metab2007，92，12：	1
15	Defects of mitochondrial β oxidation:a growing group of disorders显示文摘	Vockley J Whiteman DA	2002	Neuromuscul Disord2002，12，：	1
16	Synergistic heterozygosity:disease resulting from multiple partial defects in one or more meta-bolic pathways显示文摘	Vockley J Rinaldo P Bennett MJ	2000	Mol Genet Metab2000，71，：	1
17	RNA-guided gene activation by CRISPR-Cas9-based transcription factors 显示文摘	Perez-Pinera P Kocak DD Vockley CM	2013	Nature methods2013，10，10：	1
18	RNA-guided gene activation by CRISPR-Cas9-based tran- scription factors显示文摘	PEREZ-PINERA P KOCAK D D VOCKLEY C M et ol	2013	Nature Methods2013，10，10：	1
19	Potential misdiagnosis of 3-methylcrotonyl-coenzyme A carboxylase deficiency associated with absent or trace urinary 3-methylcrotonylglycine显示文摘	Wolfe LA Finegold DN Vockley J	2007	Pediatrics2007，120，：	1
20	Isovaleric acidemia: new aspects of genetic and phenotypic heterogeneity 显示文摘	Vockley J Ensenauer R	2006	Am J Med Genet C Semin MedGenet2006，5，2：	1

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