Mutational study in the PDHA1 gene of 40 patients suspected of pyruvate dehydrogenase complex deficiency

E Quintana; L Gort; C Busquets; A Navarro-Sastre; W Lissens; S Moliner; M Lluch; MA Vilaseca; L De Meirleir; A Ribes; P Briones; PDH Working Group

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Mutational study in the PDHA1 gene of 40 patients suspected of pyruvate dehydrogenase complex deficiency

机译：40例怀疑丙酮酸脱氢酶复合体缺乏症患者PDHA1基因的突变研究

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Quintana E, Gort L, Busquets C, Navarro-Sastre A, Lissens W, Moliner S, Lluch M, Vilaseca MA, De Meirleir L, Ribes A, Briones P, PDH Working Group. Mutational study in the PDHA1 gene of 40 patients suspected of pyruvate dehydrogenase complex deficiency.

机译：金塔纳娜E，戈特L，布斯克茨C，纳瓦罗·萨斯特雷A，利森斯W，莫林纳S，卢奇·M，维拉塞卡MA，德梅里尔L，里贝斯A，布里昂斯P，PDH工作组。怀疑丙酮酸脱氢酶复合物缺乏的40例患者的PDHA1基因突变研究。

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来源
《Clinical Genetics 》 |2010年第5期| 474-482| 共9页
作者
E Quintana; L Gort; C Busquets; A Navarro-Sastre; W Lissens; S Moliner; M Lluch; MA Vilaseca; L De Meirleir; A Ribes; P Briones; PDH Working Group;
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作者单位

Institut de Bioquímica Clínica Servei de Bioquímica i Genètica Molecular Hospital Clínic Barcelona Spain;

CIBER de Enfermedades Raras (CIBERER) Barcelona Spain;

UZ Brussel Vrije Universiteit Brussel Belgium;

Servei de Bioquímica Hospital Sant Joan de Déu Barcelona Spain;

Consejo Superior de Investigaciones Científicas Barcelona Spain;

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原文格式 PDF
正文语种 eng
中图分类
关键词
mosaicism; mutation analysis; PDHA1 gene; PDH activity; PDHc deficiency;

机译：花叶病;突变分析;PDHA1基因;PDH活性;PDHc缺乏;

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专利

1. Mutational study in the PDHA1 gene of 40 patients suspected of pyruvate dehydrogenase complex deficiency. [J] . Quintana E, Gort L, Busquets C, Clinical Genetics: An International Journal of Genetics in Medicine . 2010 ,第5期

机译：怀疑丙酮酸脱氢酶复合物缺乏的40例患者的PDHA1基因突变研究。
2. A Korean Female Patient with Thiamine-responsive Pyruvate Dehydrogenase Complex Deficiency Due to a Novel Point Mutation (Y161C)in the PDHA1 Gene [J] . Lee Eun-Ha, Ahn Mi-Sun, Hwang Jin-Soon, Journal of Korean medical science. . 2006 ,第5期

机译：一名韩国女性患者因PDHA1基因中的新型点突变（Y161C）而引起硫胺素反应性丙酮酸脱氢酶复合物缺乏症。
3. A modified Atkin's diet for an infant with pyruvate dehydrogenase complex deficiency confirmed by PDHA1 gene mutation [J] . Kim Jeong A., Yu Rita, Jo Wonha, Neurology Asia . 2014 ,第Sepa期

机译：一种经PDHA1基因突变证实患有丙酮酸脱氢酶复合体缺乏症的婴儿的改良阿特金饮食
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. Model studies for thiamin enzymes: Pyruvate dehydrogenase complex and pyruvate oxidase. [D] . Pan, Ke. 2000

机译：硫胺素酶的模型研究：丙酮酸脱氢酶复合物和丙酮酸氧化酶。
6. A Korean Female Patient with Thiamine-responsive Pyruvate Dehydrogenase Complex Deficiency Due to a Novel Point Mutation (Y161C)in the PDHA1 Gene [O] . Eun-Ha Lee, Mi-Sun Ahn, Jin-Soon Hwang, 2006

机译：一名韩国女性患者因PDHA1基因中的新型点突变（Y161C）而引起硫胺素反应性丙酮酸脱氢酶复合物缺乏症。
7. A Korean female patient with thiamine-responsive pyruvate dehydrogenase complex deficiency due to a novel point mutation (Y161C)in the PDHA1 gene. [O] . Lee, EH, Ahn, MS, Hwang, JS, 2011

机译：一名韩国女性患者，由于PDHA1基因中存在新的点突变（Y161C），因此具有硫胺素反应性丙酮酸脱氢酶复合物缺乏症。

Mutational study in the PDHA1 gene of 40 patients suspected of pyruvate dehydrogenase complex deficiency

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