Remaining Challenges in the Treatment of Tyrosinemia from the Clinician’s Viewpoint
Author:
Publisher
Springer International Publishing
Link
http://link.springer.com/content/pdf/10.1007/978-3-319-55780-9_19
Reference24 articles.
1. Garcia Segarra N, Roche S, Imbard A, Benoist JF, Greneche MO, Davit-Spraul A, Ogier de Baulny H (2010) Maternal and fetal tyrosinemia type I. J Inherit Metab Dis 33(Suppl 3):S507–S510. doi: 10.1007/s10545-012-9569-8
2. Hostetter MK, Levy HL, Winter HS, Knight GJ, Haddow JE (1983) Evidence for liver disease preceding amino acid abnormalities in hereditary tyrosinemia. N Engl J Med 308(21):1265–1267. doi: 10.1056/NEJM198305263082105
3. Jakobs C, Kvittingen EA, Berger R, Haagen A, Kleijer W, Niermeijer M (1985) Prenatal diagnosis of tyrosinaemia type I by use of stable isotope dilution mass spectrometry. Eur J Pediatr 144(2):209–210
4. Jorquera R, Tanguay RM (1997) The mutagenicity of the tyrosine metabolite, fumarylacetoacetate, is enhanced by glutathione depletion. Biochem Biophys Res Commun 232(1):42–48. doi: 10.1006/bbrc.1997.6220
5. Kassel R, Sprietsma L, Rudnick DA (2015) Pregnancy in an NTBC-treated patient with hereditary tyrosinemia type I. J Pediatr Gastroenterol Nutr 60(1):e5–e7. doi: 10.1097/MPG.0b013e3182a27463
Cited by 8 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. In vivo dissection of the mouse tyrosine catabolic pathway with CRISPR-Cas9 identifies modifier genes affecting hereditary tyrosinemia type 1;GENETICS;2024-08-23
2. Initial presentation, management and follow-up data of 33 treated patients with hereditary tyrosinemia type 1 in the absence of newborn screening;Molecular Genetics and Metabolism Reports;2022-12
3. Hereditary Tyrosinemia;Nutrition Management of Inherited Metabolic Diseases;2022
4. Genetic burden linked to founder effects in Saguenay–Lac-Saint-Jean illustrates the importance of genetic screening test availability;Journal of Medical Genetics;2021-04-28
5. Oxidative Stress, Glutathione Metabolism, and Liver Regeneration Pathways Are Activated in Hereditary Tyrosinemia Type 1 Mice upon Short-Term Nitisinone Discontinuation;Genes;2020-12-22
1.学者识别学者识别
2.学术分析学术分析
3.人才评估人才评估
"同舟云学术"是以全球学者为主线,采集、加工和组织学术论文而形成的新型学术文献查询和分析系统,可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容,当前同舟云学术共收录了国内外主流学术期刊6万余种,收集的期刊论文及会议论文总量共计约1.5亿篇,并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询!咨询电话:010-8811{复制后删除}0370
www.globalauthorid.com
TOP
Copyright © 2019-2024 北京同舟云网络信息技术有限公司 京公网安备11010802033243号 京ICP备18003416号-3