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11篇 您的检索式:作者名="Korman SH"
    题名 作者 年代 出处 被引量
1Mothy lenetetrahy drofolate reductase deficiency : importance of early diagnosis 显示文摘Fattal A Bassan H Korman SH 2000Child Neurol2000,15,8:1
2Prenatal diagnosis for arginase deficiency by second-trimester fetal erythrocyte arginase assay and first-trimester ARG1 mutation analysis 显示文摘Korman SH Gutman A Stemmer E 2004Prenat Diagn2004,24,11:1
3Phenotype and genotype variation in primary carnitine deficiency 显示文摘Wang Y Korman SH YeJ GargusJJ Gutman A Taroni F 2001Genet Med2001,3,6:1
4HSD17B10 replaces HADH2 as the approved designation for the gene mutated in 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency显示文摘Korman SH Yang SY 2007Mol Genet Metab2007,91,1:1
5Thrombocytopenic purpura during the incubation of hepatitis B显示文摘 1991Acta Paediatr Scand1991,80,10:1
6PNPO deficiency: an under diagnosed inborn error of pyridoxine metabolism显示文摘Khayat M Korman SH Frankel P Weintraub Z Hershekowitz S Sheffer VF 2008Mol Genet Metab2008,94,4:1
7Phenotype and genotype variation in primary carnitine deficiency 显示文摘Wang Y Korman SH Ye J 2001Genet Med2001,3,6:1
8Rapid diagnosis of glycine encephalopathy by 13C- glycine breath test 显示文摘Kure S Korman SH Kanno J Narisawa A Kubota M Takayanagi T Takayanagi M Saito T Matsui A Kamada F Aoki Y Ohura T Matsubara Y 2006Annals of neurology2006,59,5:1
9Mutiple hornet (Vespa orientalis) stings with fatal outcome in a child显示文摘Korman SH Jabbour S Harari MD 1990J Paediatr Child Health1990,26,5:1
10Glutaric aciduria type 1:clinical,biochemical and molecular findings in patients from Israel显示文摘Korman SH Jakobs C Darmin PS 2007Eur J Paediatr Neurol2007,11,2:1
11Prenatal diagnosis for ar-ginase deficiency by second-trimester fetal erythrocyte arginase assay and first-trimester ARG1 mutation analysis 显示文摘Korman SH Gutman A Stemmer E 2004Prenat Diagn2004,24,11:1
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