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19篇 您的检索式:作者名="Merinero B"
    题名 作者 年代 出处 被引量
1Screening for adenylosuccinate lyase deficiency:clinical,biochemical and molecular findings in four patients显示文摘Castro M Perez-Cerda C Merinero B 2002Neuropediatrics2002,33,4:1
2Correlation of genotype and phenotype in glutaryl-CoA dehydrogenase deficiency显示文摘Christensen E Ribes A Merinero B Journal of Inherited Metabolic Disease0,,:1
3Correlation of genotype and phenotype in glutaryl-CoA dehydrogenase deficiency显示文摘Christensen E Ribes A Merinero B 2004J Inherit Metab Dis2004,27,6:1
4Screening for adenylosuccinate lyase deficiency= clinical, biochemical and molecular findings in four patients显示文摘Castro M Perez-Cerda C Merinero B 2002Neuropediatrics2002,33,4:1
5Screening for adenylosuccinate lyase deficiency: clinical, biochemical and molecular findings in four patients显示文摘CASTRO M PETREZ-CERDA C MERINERO B 2002Neuropediatrics2002,33,4:1
6A Novel regulatory defect in the branched-chain alpha-ketoacid dehydro- genase complex due to a mutation in the PPM1K gene causes amild variant phenotype of maple syrup urine disease 显示文摘Oyarzabal A Martinez-Pardo M Merinero B 2013Hum Mutat2013,34,2:1
7Methylmalonic aci- daemia: examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group 显示文摘Merinero B Perez B Perez-Cerda C 2008J Inherit Metab Dis2008,31,1:1
8Glutaryl-CoA dehydrogenase deficiency in Spain: evidence of two groups of patients, genetically, and biochemically distinct显示文摘Busquets C Merinero B Christensen E 2000Pediatr Res2000,48,3:1
9Prenatal diagnosis of propionic acidemia Prenat Diagn 显示文摘Perez - Cerda C Perez B Merinero B 2004Prenat Diagn2004,24,12:1
10Glutary]-CoA dehydrogenase deficiency in Spain: evidence of two groups of patients, genetically, and biochemically distinct 显示文摘Busquets C Merinero B Christensen E 2000Pediatr Res2000,48,3:1
11Methylmalonic acidaemia: examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group显示文摘Merinero B Prez B P6rez-Cerd/t C 2008J Inherit Metab Dis2008,31,1:1
12Correlation of genotype and phenotype in glutaryl-CoA dehydrogenase deficiency显示文摘Christensen E Ribes A Merinero B 2004J Inherit Metab Dis2004,27,:1
13Correlation of genotype and phenotype in glutaryl-CoA dehydrogenase deficiency显示文摘Christensen E Ribes A Merinero B 2004J In- herit Metab Dis2004,27,:1
14Methylmalonic acidaemia: examination of genotype and biochemical data in 32 patients belonging to mut,cblA or cblB complementation group 显示文摘Merinero B P6rez B P6rez-Cerd6 C 2008J Inherit Metab Dis2008,31,1:1
15prenatal diagnosis of propionic academia显示文摘Perez-Cerda C Perez B Merinero B 2004Prenat Diag2004,24,:1
16Prenatal diagnosis of propionic acidemia显示文摘Pérez-Cerdá C Pérez B Merinero B Desviat LR Rodríguez-Pombo P Ugarte M 2004Prenat Diagn2004,24,5:1
17A novel regulatory defect in the branched-chain alpha-ketoacid de hydrogenase complex due to a mutation in the PPMIK gene causes a mild variant phenotype o{ maple syrup u- rine disease显示文摘Oyarzabal A Martinez PM Merinero B 2012Hum Mutat2012,34,2:1
18Screening for adeny- losuccinate lyase deficiency:clinical,biochemical and molecular findings in four pafients显示文摘Castro M Perez-Cercla C Merinero B 2002Neuropediatrics2002,33,4:1
19A Novel regu- latory defect in the branched-chain alpha-ketoacid dehydrogenase complex due to a mutation in the PPM1K gene causes a mild variant phenotype of maple syrup urine disease 显示文摘Oyarzabal A Martinez-Pardo M Merinero B 2012Hum Mutat2012,34,2:1
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