Reye-like syndrome in a patient with suspected medium-chain acyl-CoA dehydrogenase deficiency and two unaffected family members with an acyl-CoA dehydrogenase-mutation

Kamm M.; Godau J.; Berger I.; Rottscholl R.

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Reye-like syndrome in a patient with suspected medium-chain acyl-CoA dehydrogenase deficiency and two unaffected family members with an acyl-CoA dehydrogenase-mutation

机译：患有疑似中链酰基-CoA脱氢酶缺乏的患者中的Reye样综合征，以及两个未受影响的家庭成员，具有酰基-CoA脱氢酶突变

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《Virchows Archiv: an international journal of pathology》 |2018年第1期|共1页
作者
Kamm M.; Godau J.; Berger I.; Rottscholl R.;
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作者单位

Klinikum Kassel Inst Pathol Kassel Germany;

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原文格式 PDF
正文语种 eng
中图分类医学微生物学（病原细菌学、病原微生物学）;
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1. Reye-like syndrome in a patient with suspected medium-chain acyl-CoA dehydrogenase deficiency and two unaffected family members with an acyl-CoA dehydrogenase-mutation [J] . Kamm M., Godau J., Berger I., Virchows Archiv: an international journal of pathology . 2018,第Suppla1期

机译：患有疑似中链酰基-CoA脱氢酶缺乏的患者中的Reye样综合征，以及两个未受影响的家庭成员，具有酰基-CoA脱氢酶突变
2. Immunochemical Characterization of Variant Medium-Chain Acyl-CoA Dehydrogenase in Fibroblasts from Patients with Medium-Chain Acyl-CoA Dehydrogenase Deficiency [J] . Paul M Coates, Yasuhiro Indo, Denise Young, Pediatric Research . 1992,第1期

机译：中链酰基辅酶A脱氢酶缺乏症患者成纤维细胞中变异型中链酰基辅酶A脱氢酶的免疫化学表征
3. Relationship of octanoylcarnitine concentrations to age at sampling in unaffected newborns screened for medium-chain acyl-CoA dehydrogenase deficiency. [J] . Khalid JM, Oerton J, Besley G, Clinical Chemistry: Journal of the American Association for Clinical Chemists . 2010,第6期

机译：筛查未受影响新生儿的中链酰基辅酶A脱氢酶缺乏症时，辛酰肉碱浓度与年龄的关系。
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. Discussion of the potential benefits, implications and applications of research and data on parental experiences of children identified as a carrier for medium-chain acyl-CoA dehydrogenase deficiency. [D] . Davar, Ushtavaity V. 2005

机译：讨论被确定为中链酰基辅酶A脱氢酶缺乏症携带者的儿童的父母经验的研究和数据的潜在益处，影响和应用。
6. Clinical Biochemical and Molecular Analyses of Medium-Chain Acyl-CoA Dehydrogenase Deficiency in Chinese Patients [O] . Zhuwen Gong, Lili Liang, Wenjuan Qiu, 2021

机译：中链酰基 - 辅助脱氢酶缺乏症的临床生化和分子分析
7. Relationship of Octanoylcarnitine Concentrations to Age at Sampling in Unaffected Newborns Screened for Medium-Chain Acyl-CoA Dehydrogenase Deficiency [O] . J. M. Khalid, J. Oerton, G. Besley, 2010

机译：辛烷酰基氨基氨基浓度在未受影响的新生儿在筛选中对中链酰基-CoA脱氢酶缺乏的影响

Reye-like syndrome in a patient with suspected medium-chain acyl-CoA dehydrogenase deficiency and two unaffected family members with an acyl-CoA dehydrogenase-mutation

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