Oral phenylalanine loading profiles in symptomatic and asymptomatic gene carriers with dopa-responsive dystonia due to dominantly inherited GTP cyclohydrolase deficiency.

Hyland K; Nygaard TG; Trugman JM; Swoboda KJ; Arnold LA; Sparagana SP

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Oral phenylalanine loading profiles in symptomatic and asymptomatic gene carriers with dopa-responsive dystonia due to dominantly inherited GTP cyclohydrolase deficiency.

机译：有症状和无症状的基因携带者患有多巴反应性肌张力障碍的口服苯丙氨酸负荷特征，这是由于遗传性遗传性GTP环水解酶缺乏症。

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来源
《Journal of inherited metabolic disease》 |1999年第3期|共3页
作者
Hyland K; Nygaard TG; Trugman JM; Swoboda KJ; Arnold LA; Sparagana SP;
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原文格式 PDF
正文语种 eng
中图分类内分泌腺疾病及代谢病;
关键词
Dopamine; Dystonia; GTP Cyclohydrolase; Heterozygote; Phenylalanine; Tyrosine; 多巴胺; 张力障碍; GTP环化水解酶; 杂合子; 苯丙氨酸;

机译：Dopamine;Dystonia;GTP Cyclohydrolase;Heterozygote;Phenylalanine;Tyrosine;多巴胺;张力障碍;GTP环化水解酶;杂合子;苯丙氨酸;

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外文文献

1. Oral phenylalanine loading profiles in symptomatic and asymptomatic gene carriers with dopa-responsive dystonia due to dominantly inherited GTP cyclohydrolase deficiency. [J] . Hyland K, Nygaard TG, Trugman JM, Journal of inherited metabolic disease . 1999,第3期

机译：有症状和无症状的基因携带者患有多巴反应性肌张力障碍的口服苯丙氨酸负荷特征，这是由于遗传性遗传性GTP环水解酶缺乏症。
2. A novel missense mutation of the GTP cyclohydrolase I gene in a Korean family with hereditary progressive dystonia/dopa-responsive dystonia. [J] . Kang JH, Kang SY, Kang HK, Brain & Development . 2004,第5期

机译：韩国家族遗传性进行性肌张力障碍/多巴反应性肌张力障碍的一个新的GTP环水解酶I基因的错义突变。
3. A novel missense mutation of the GTP cyclohydrolase 1 gene in a Taiwanese family with dopa-responsive dystonia: A case report [J] . Yang Chen-Chih, Wang Wei-Chung, Yeh Tu-Hsueh, Clinical neurology and neurosurgery . 2018,第期

机译：具有DOPA响应Dystonia的台湾家庭GTP环旋解酶1基因的新次麦克雷突变：案例报告
4. ANALYSIS OF GENETIC DIVERSITY AND VIRULENCE-ASSOCIATED GENE PROFILING OF STREPTOCOCCUS SUIS ISOLATES FROM SYMPTOMATIC AND ASYMPTOMATIC PIGS INITALY [C] . Chiara Magistrali, Bruna Facinelli, Maria Stella Princivalli, Congress ofthe International Pig Veterinary Society . 2008

机译：来自症状和无症状猪的链球菌分离物的遗传多样性和毒力相关基因谱分析
5. Two novel mutations of the GTP cyclohydrolase 1 gene and genotype–phenotype correlation in Chinese Dopa-responsive dystonia patients [O] . Lihua Yu, Huayong Zhou, Fayun Hu, 2013

机译：中国多巴反应性肌张力障碍患者GTP环水解酶1基因的两个新突变和基因型-表型的相关性。
6. GTP cyclohydrolase I and tyrosine hydroxylase gene mutations in familial and sporadic dopa-responsive dystonia patients. [O] . Chunyou Cai, Wentao Shi, Zheng Zeng, 2013

机译：GTp环化水解酶I和酪氨酸羟化酶基因突变在家族性和散发性多巴反应性肌张力障碍患者中。

Oral phenylalanine loading profiles in symptomatic and asymptomatic gene carriers with dopa-responsive dystonia due to dominantly inherited GTP cyclohydrolase deficiency.

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