Characterization of Phenyalanine Hydroxylase Gene Mutations in Chilean PKU Patients
Author:
Publisher
Springer Berlin Heidelberg
Link
http://link.springer.com/content/pdf/10.1007/8904_2017_85
Reference24 articles.
1. Aldamiz-Echevarria L, Llarena M, Bueno MA, Dalmau J, Vitoria I, Fernandez-Marmiesse A, Andrade F, Blasco J, Alcalde C, Gil D, Garcia MC, Gonzalez-Lamuno D, Ruiz M, Ruiz MA, Pena-Quintana L, Gonzalez D, Sanchez-Valverde F, Desviat LR, Perez B, Couce ML (2016) Molecular epidemiology, genotype-phenotype correlation and BH4 responsiveness in Spanish patients with phenylketonuria. J Hum Genet 61(8):731–744
2. Blau N (2016) Genetics of phenylketonuria: then and now. Hum Mutat 37(6):508–515
3. Blau N, Hennermann JB, Langenbeck U, Lichter-Konecki U (2011) Diagnosis, classification, and genetics of phenylketonuria and tetrahydrobiopterin (BH4) deficiencies. Mol Genet Metab 104(Suppl):S2–S9
4. Camp KM, Parisi MA, Acosta PB, Berry GT, Bilder DA, Blau N, Bodamer OA, Brosco JP, Brown CS, Burlina AB, Burton BK, Chang CS, Coates PM, Cunningham AC, Dobrowolski SF, Ferguson JH, Franklin TD, Frazier DM, Grange DK, Greene CL, Groft SC, Harding CO, Howell RR, Huntington KL, Hyatt-Knorr HD, Jevaji IP, Levy HL, Lichter-Konecki U, Lindegren ML, Lloyd-Puryear MA, Matalon K, MacDonald A, McPheeters ML, Mitchell JJ, Mofidi S, Moseley KD, Mueller CM, Mulberg AE, Nerurkar LS, Ogata BN, Pariser AR, Prasad S, Pridjian G, Rasmussen SA, Reddy UM, Rohr FJ, Singh RH, Sirrs SM, Stremer SE, Tagle DA, Thompson SM, Urv TK, Utz JR, van Spronsen F, Vockley J, Waisbren SE, Weglicki LS, White DA, Whitley CB, Wilfond BS, Yannicelli S, Young JM (2014) Phenylketonuria scientific review conference: state of the science and future research needs. Mol Genet Metab 112(2):87–122
5. Cornejo V, Raimann E, Cabello JF, Valiente A, Becerra C, Opazo M, Colombo M (2010) Past, present and future of newborn screening in Chile. J Inherit Metab Dis 33(Suppl 3):S301–S306
Cited by 9 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. Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020–2023);International Journal of Neonatal Screening;2024-05-23
2. Diet therapy and metabolic control among Chilean adults with a neonatal diagnosis of Phenylketonuria;Journal of Inborn Errors of Metabolism and Screening;2024
3. Risk of Developing Insulin Resistance in Adult Subjects with Phenylketonuria: Machine Learning Model Reveals an Association with Phenylalanine Concentrations in Dried Blood Spots;Metabolites;2023-05-23
4. Screening and mutation analysis of phenylalanine hydroxylase deficiency in newborns from Jiangxi province;Frontiers in Genetics;2023-02-09
5. An Updated PAH Mutational Spectrum of Phenylketonuria in Mexican Patients Attending a Single Center: Biochemical, Clinical-Genotyping Correlations;Genes;2021-10-23
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