首页> 外文OA文献 >Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms:identification and characterization of a new, prevalent mutation that results in mild MCAD deficiency

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Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms:identification and characterization of a new, prevalent mutation that results in mild MCAD deficiency

机译：通过基于MS / MS的新生儿前瞻性筛查确定的中链酰基辅酶A脱氢酶（MCAD）突变与临床症状患者中观察到的突变不同：鉴定和表征导致轻度MCAD缺乏的新的普遍突变

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Andresen, B S; Dobrowolski, S F; O'Reilly, L; Muenzer, J; McCandless, S E; Frazier, D M; Udvari, S; Bross, P; Knudsen, I; Banas, R; Chace, D H; Engel, P; Naylor, E W; Gregersen, N;
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1. Neonatal screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in The Netherlands: the importance of enzyme analysis to ascertain true MCAD deficiency. [J] . Derks TG, Boer TS, van-Assen A, Journal of inherited metabolic disease . 2008,第1期

机译：荷兰新生儿中链酰基辅酶A脱氢酶（MCAD）缺乏症的筛查：酶分析对确定真正MCAD缺乏症的重要性。
2. Neonatal screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in The Netherlands: The importance of enzyme analysis to ascertain true MCAD deficiency [J] . T. G. J. Derks, T. S. Boer, A. van Assen, Journal of Inherited Metabolic Disease . 2008,第1期

机译：荷兰新生儿中链酰基辅酶A脱氢酶（MCAD）缺乏症的筛查：酶分析对确定真正的MCAD缺乏症的重要性
3. Homozygosity for a severe novel medium-chain acyl-CoA dehydrogenase (MCAD) mutation IVS3-1G > C that leads to introduction of a premature termination codon by complete missplicing of the MCAD mRNA and is associated with phenotypic diversity ranging f [J] . Korman SH, Gutman A, Brooks R, Molecular genetics and metabolism . 2004,第2期

机译：严重的新型中链酰基辅酶A脱氢酶（MCAD）突变IVS3-1G> C的纯合性，该突变导致通过完全错配MCAD mRNA引入过早终止密码子，并与范围为f的表型多样性相关
4. Mutation typing in patients with medium chainAcylCoA dehydrogenase deficiency (MCADD) andPCR based mutation screening in SIDS victims [C] . D. Krause, K. Jachau, K. Mohnike, International Society for Forensic Genetics . 2006

机译：中链酰基乙酰脱氢酶缺乏症（MCADD）突变筛查患者的突变敏感筛选
5. Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Mutations Identified by MS/MS-Based Prospective Screening of Newborns Differ from Those Observed in Patients with Clinical Symptoms: Identification and Characterization of a New Prevalent Mutation That Results in Mild MCAD Deficiency [O] . Brage Storstein Andresen, Steve F. Dobrowolski, Linda OReilly, 2001

机译：中链酰基辅酶A脱氢酶（MCAD）突变通过基于MS / MS的新生儿前瞻性筛查与临床症状患者中观察到的新生儿不同而鉴定：新的普遍突变导致轻度MCAD缺乏症的鉴定和表征
6. Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Mutations Identified by MS/MS-Based Prospective Screening of Newborns Differ from Those Observed in Patients with Clinical Symptoms: Identification and Characterization of a New, Prevalent Mutation That Results in Mild MCAD Deficiency* [O] . Andresen, Brage Storstein, Dobrowolski, Steve F., O'Reilly, Linda, 2001

机译：中链酰基辅酶A脱氢酶（MCAD）突变已通过基于MS / MS的前瞻性筛查与临床症状患者观察到的新生儿不同而鉴定：新的普遍突变导致轻度MCAD缺陷*的鉴定和表征*

Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms:identification and characterization of a new, prevalent mutation that results in mild MCAD deficiency

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