Mildly elevated succinylacetone and normal liver function in compound heterozygotes with pathogenic and pseudodeficient FAH alleles

机译：具有致病性和假缺陷性FAH等位基因的复合杂合子中琥珀酰丙酮轻度升高和肝功能正常

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BackgroundA high level of succinylacetone (SA) in blood is a sensitive, specific marker for the screening and diagnosis of hepatorenal tyrosinemia (HT1, MIM ). HT1 is caused by mutations in the FAH gene, resulting in deficiency of fumarylacetoacetate hydrolase. HT1 newborns are usually clinically asymptomatic, but have coagulation abnormalities revealing liver dysfunction. Treatment with nitisinone (NTBC) plus dietary restriction of tyrosine and phenylalanine prevents the complications of HT1

机译：背景技术血液中的琥珀酰丙酮（SA）含量高是筛查和诊断肝肾酪氨酸血症（HT1，MIM）的敏感，特异标志物。 HT1是由FAH基因突变引起的，导致富马酰乙酰乙酸水解酶的缺乏。 HT1新生儿通常在临床上无症状，但凝血功能异常，显示肝脏功能障碍。尼替尼酮（NTBC）加上饮食限制的酪氨酸和苯丙氨酸治疗可预防HT1并发症

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期刊名称 Molecular Genetics and Metabolism Reports
作者
Hao Yang; Francis Rossignol; Denis Cyr; Rachel Laframboise; Shu Pei Wang; Jean-François Soucy; Marie-Thérèse Berthier; Yves Giguère; Paula J. Waters; Grant A. Mitchell;
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作者单位

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年(卷),期 2018(14),-1
年度 2018
页码 55–58
总页数 4
原文格式 PDF
正文语种
中图分类遗传学;
关键词
Tyrosinemia Hypersuccinylacetonemia Fah Fumarylacetoacetate hydrolase Nitisinone Pseudodeficiency;

机译：酪氨酸血症;高琥珀酸丙酮血症;华氏;富马酰乙酰乙酸水解酶;尼替尼酮;假性缺乏;

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专利

1. Mildly elevated succinylacetone and normal liver function in compound heterozygotes with pathogenic and pseudodeficient FAH alleles [J] . Hao Yang, Francis Rossignol, Denis Cyr, Molecular Genetics and Metabolism Reports . 2018,第2期

机译：具有致病性和假缺陷性FAH等位基因的复合杂合子中丁二酰丙酮的轻度升高和肝功能正常
2. THE PHENOTYPES OF HOMOZYGOTES AND HEMIZYGOTES OF POSITION ALLELES AND OF HETEROZYGOTES BETWEEN ALLELES IN NORMAL AND TRANSLOCATED POSITIONS [J] . Curt Stern, M. Kodani, R. H. MacKnight Genetics: A Periodical Record of Investigations Bearing on Heredity and Variation . 1946,第6期

机译：正常和易位等位基因等位基因和等位基因之间的纯合子和半合子的表型
3. Diagnostic accuracy of liver stiffness measurement in chronic hepatitis B patients with normal or mildly elevated alanine transaminase levels [J] . Qiang Li, Liang Chen, Yu Zhou Scientific reports. . 2018,第1期

机译：慢性乙型肝炎患者肝硬化测量肝硬化患者诊断准确性，丙氨酸转氨酶水平
4. Dendrimer-based Lipid Nanoparticles Deliver Therapeutic FAH mRNA to Normalize Liver Function and Extend Survival in a Mouse Model of Hepatorenal Tyrosinemia Type I [C] . Qiang Cheng, Tuo Wei, Yuemeng Jia, Society for Biomaterials annual meeting and exposition . 2019

机译：基于树状大分子的脂质纳米颗粒可提供治疗性FAH mRNA，以正常化肝脏功能并延长I型肝肾酪氨酸血症小鼠模型的存活率。
5. Functional Food-Related Bioactive Compounds: Effect of Sorghum Phenolics on Cancer Cells in vivo and Conversion of Short- to Long-Chain Omega-3 Polyunsaturated Fatty Acids in Duck Liver in vivo [D] . Chen, Xi. 2017

机译：功能性食物相关的生物活性化合物：高粱酚醛酚类对体内癌细胞的影响和鸭肝中鸭肝中的短到长链ω-3多不饱和脂肪酸的转化
6. The Phenotypes of Homozygotes and Hemizygotes of Position Alleles and of Heterozygotes between Alleles in Normal and Translocated Positions [O] . Curt Stern, R. H. MacKnight, M. Kodani 1946

机译：正常等位基因和易位等位基因之间的纯合子和半合子表型以及等位基因之间的杂合子表型
7. Mildly elevated succinylacetone and normal liver function in compound heterozygotes with pathogenic and pseudodeficient FAH alleles [O] . Hao Yang, Francis Rossignol, Denis Cyr, 2018

机译：致病性和假性缺陷FaH等位基因的复合杂合子中琥珀酰丙酮轻度升高和肝功能正常

Mildly elevated succinylacetone and normal liver function in compound heterozygotes with pathogenic and pseudodeficient FAH alleles

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