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Hyperinsulinism/hyperammonemia (HI/HA) syndrome due to a mutation in the glutamate dehydrogenase gene Síndrome de hiperinsulinemia/hiperamonemia devido a uma mutação no gene da glutamato desidrogenase

机译：谷氨酸脱氢酶基因突变引起的高胰岛素血症/高氨血症综合征（HI / HA）谷氨酸脱氢酶基因突变引起的高胰岛素血症/高氨血症综合征

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Maria Lúcia Corrêa-Giannella; Daniel Soares Freire; Ana Mercedes Cavaleiro; Maria Angela Zanella Fortes; Ricardo Rodrigues Giorgi; Maria Adelaide Albergaria Pereira;
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1. Two Unrelated Chinese Patients with Hyperinsulinism/Hyperammonemia (HI/HA) Syndrome Due to Mutations in Glutamate Dehydrogenase Gene [J] . Chengming Diao, Shi Chen, Xinhua Xiao, Journal of pediatric endocrinology & metabolism: JPEM . 2010,第7期

机译：两名无关的中国患者因谷氨酸脱氢酶基因突变而出现高胰岛素血症/高氨血症（HI / HA）综合征
2. Novel missense mutations in the glutamate dehydrogenase gene in the congenital hyperinsulinism-hyperammonemia syndrome. [J] . Miki Y, Taki T, Ohura T, The Journal of pediatrics . 2000,第1期

机译：先天性高胰岛素血症-高氨血症综合征中谷氨酸脱氢酶基因的新型错义突变。
3. A novel mutation in the glutamate dehydrogenase (GLUD1) of a patient with congenital hyperinsulinism-hyperammonemia (HI/HA) [J] . Fang Chen, Ding Xin, Huang Yun, Journal of pediatric endocrinology & metabolism: JPEM . 2016,第3期

机译：先天性高胰岛素血症-高氨血症（HI / HA）患者的谷氨酸脱氢酶（GLUD1）的新型突变
4. Cloning, Expression and Immunocompetence Analysis of Gene Encoding the Glutamate Dehydrogenase of Streptococcus suis Serotype 2 [C] . Yang Wei-Jun, Yang Zhi-Biao, Cai Xue-Hui, 2010 4th International Conference on Bioinformatics and Biomedical Engineering . 2010

机译：猪链球菌血清型2谷氨酸脱氢酶基因的克隆，表达及免疫能力分析
5. Diverse mechanisms of human genetic disease: Splice order determination in the COL1A2 gene. Effects that influence splice site mutations in osteogenesis imperfecta and a translocation disrupting SNRPN gene causes Prader-Willi syndrome. [D] . Kuslich, Christine D. 1999

机译：人类遗传疾病的多种机制：COL1A2基因的剪接顺序确定。影响成骨不全症中剪接位点突变和易位破坏SNRPN基因的效应会导致Prader-Willi综合征。
6. Hyperinsulinism associated with GLUD1 mutation: allosteric regulation and functional characterization of p.G446V glutamate dehydrogenase [O] . Karolina Luczkowska, Caroline Stekelenburg, Frédérique Sloan-Béna, 2020

机译：与GLUD1突变相关的高胰岛素血症：p.G446V谷氨酸脱氢酶的变构调节和功能表征
7. Molecular basis and characterization of the hyperinsulinism/hyperammonemia syndrome: predominance of mutations in exons 11 and 12 of the glutamate dehydrogenase gene. HI/HA Contributing Investigators [O] . C. A. Stanley, J. Fang, K. Kutyna, 2000

机译：分子基础和表征高胰岛素素/高肝癌综合征：谷氨酸脱氢酶基因的外显子11和12中突变的优势。 HI / HA贡献调查人员

Hyperinsulinism/hyperammonemia (HI/HA) syndrome due to a mutation in the glutamate dehydrogenase gene Síndrome de hiperinsulinemia/hiperamonemia devido a uma mutação no gene da glutamato desidrogenase

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