A case of pyruvate dehydrogenase E1α subunit deficiency with antenatal brain dysgenesis demonstrated by prenatal sonography and magnetic resonance imaging

TamaruS.; KikuchiA.; TakagiK.; OkunoJ.; IshikawaK.; ImadaS.; HorikoshiT.; GotoY.-I.; HirabayashiS.

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A case of pyruvate dehydrogenase E1α subunit deficiency with antenatal brain dysgenesis demonstrated by prenatal sonography and magnetic resonance imaging

机译：产前超声和磁共振成像证实丙酮酸脱氢酶E1α亚基缺乏伴产前脑发育不全1例

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Prenatal depiction of brain dysgenesis in patients with pyruvate dehydrogenase complex (PDHc) deficiencies has been infrequently reported. As PDHc plays a critical role in the brain that obtains all of the energy from the aerobic oxidation of glucose, its deficiency is a severe inborn disorder of metabolism, which predominantly affects the nervous system. This report describes a case of PDHc deficiency with antenatal brain dysgenesis depicted in detail by fetal ultrasound and magnetic resonance imaging. This is the first case report clearly demonstrating the developing mechanism and time course of antenatal brain lesions in a patient with PDHc deficiency.

机译：丙酮酸脱氢酶复合物（PDHc）缺乏症患者的脑发育不良的产前描述很少见。由于PDHc在大脑中发挥重要作用，而大脑从需氧氧化中获得所有能量，因此它的缺乏是先天性的严重代谢紊乱，主要影响神经系统。该报告描述了胎儿超声和磁共振成像详细描述的一例产前脑发育不全的PDHc缺乏症。这是第一例病例报告，清楚地证明了PDHc缺乏症患者产前脑病变的发生机理和时程。

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《Journal of Clinical Ultrasound: JCU》 |2012年第4期|共5页
作者
TamaruS.; KikuchiA.; TakagiK.; OkunoJ.; IshikawaK.; ImadaS.; HorikoshiT.; GotoY.-I.; HirabayashiS.;
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正文语种 eng
中图分类影像诊断学;
关键词
Brain dysgenesis; Fetal anomalies; Obstetrics; Pyruvate dehydrogenase E1α; Subunit deficiency; Ultrasound;

机译：脑发育不全;胎儿异常;产科;丙酮酸脱氢酶E1α;亚基缺乏;超声;

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1. A case of pyruvate dehydrogenase E1α subunit deficiency with antenatal brain dysgenesis demonstrated by prenatal sonography and magnetic resonance imaging [J] . TamaruS., KikuchiA., TakagiK., Journal of Clinical Ultrasound: JCU . 2012,第4期

机译：产前超声和磁共振成像证实丙酮酸脱氢酶E1α亚基缺乏伴产前脑发育不全1例
2. Prenatal diagnosis of pyruvate dehydrogenase deficiency using magnetic resonance imaging. [J] . Robinson JN, Norwitz ER, Mulkern R, Prenatal Diagnosis . 2001,第12期

机译：产前使用磁共振成像诊断丙酮酸脱氢酶缺乏症。
3. Improvement of pathological findings on magnetic resonance imaging of the brain with use of ketogenic diet for pyruvate dehydrogenase complex deficiency [J] . Larson Austin, Stence Nicholas V., Coughlin Curtis R. II, Molecular genetics and metabolism . 2015,第3期

机译：生酮饮食改善丙酮酸脱氢酶复合物缺乏症对大脑磁共振成像的病理结果的改善
4. EVOLUTION OF THE THDP DEPENDENT PYRUVATE DEHYDROGENASE E1 SUBUNIT FOR THE CONVERSION OF LONG CHAIN ALIPHATIC KETOACIDS [C] . Stefan Marsden, Duncan G. G. McMillan, Ulf Hanefeld Conference on biochemical and molecular engineering . 2019

机译：长链脂族酮酸转化的依赖于THDP的丙酮酸脱氢酶E1的进化
5. Regulatory functions of the pyruvate decarboxylase beta (E1beta) and the dihydrolipoamide acetyltransferase (E2) subunits of the pyruvate dehydrogenase complex in Bacillus subtilis. [D] . Gao, Haichun. 2001

机译：枯草芽孢杆菌中丙酮酸脱羧酶复合物的丙酮酸脱羧酶β（E1beta）和二氢脂酰胺乙酰基转移酶（E2）亚基的调节功能。
6. Mutations in the X-linked E1 alpha subunit of pyruvate dehydrogenase: exon skipping insertion of duplicate sequence and missense mutations leading to the deficiency of the pyruvate dehydrogenase complex. [O] . K Chun, N MacKay, R Petrova-Benedict, 1995

机译：丙酮酸脱氢酶的X连锁E1α亚基中的突变：外显子跳过重复序列的插入和错义突变导致丙酮酸脱氢酶复合物的缺乏。
7. A Mutation in the E1α Subunit of Pyruvate Dehydrogenase Associated with Variable Expression of Pyruvate Dehydrogenase Complex Deficiency [O] . Isaiah D Wexler, Sullia G Hemalatha, Te-Cheung Liu, 1992

机译：丙酮酸脱氢酶E1α亚基的突变与丙酮酸脱氢酶复合缺乏可变表达相关的脱氢酶

A case of pyruvate dehydrogenase E1α subunit deficiency with antenatal brain dysgenesis demonstrated by prenatal sonography and magnetic resonance imaging

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