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Saudi Journal of Kidney Diseases and Transplantation
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1Two Novel AGXT Mutations Cause the Infantile Form of Primary Hyperoxaluria Type I in a Chinese Family: Research on Missed Mutation
Xiulan Lu,Weijian Chen,Liping Li,Xinyuan Zhu,Caizhi Huang,Saijun Liu,Yongjia Yang,Yaowang Zhao
Frontiers in Pharmacology.2019;10()
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2Oxalate retinopathy is irreversible despite early combined liver-kidney transplantation in primary hyperoxaluria type 1
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American Journal of Transplantation.2019;19(12)3328
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3A novel nonsense variant of the AGXT identified in a Chinese family: special variant research in the Chinese reference genome
Chang Bao Xu,Xu Dong Zhou,Hong En Xu,Yong Li Zhao,Xing Hua Zhao,Dan Hua Liu,Yong An Tian,Xin Xin Hu,Jing Yuan Guan,Jian Cheng Guo,Wen Xue Tang,Xia Xue
BMC Nephrology.2021;22(1)3328
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4Clinical analysis of 13 children with primary hyperoxaluria type 1
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Urolithiasis.2021;49(5)425
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5Clinical analysis of 13 children with primary hyperoxaluria type 1
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6A case of failure to thrive secondary to primary hyperoxaluria type 1
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Radiology Case Reports.2020;15(10)1806
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7Phase 3 trial of lumasiran for primary hyperoxaluria type 1: A new RNAi therapeutic in infants and young children
David J. Sas,Daniella Magen,Wesley Hayes,Hadas Shasha-Lavsky,Mini Michael,Indra Schulte,Anne-Laure Sellier-Leclerc,Jiandong Lu,Ali Seddighzadeh,Bahru Habtemariam,Tracy L. McGregor,Kenji P. Fujita,Yaacov Frishberg,Justine Bacchetta,Véronique Baudouin,Rachel Becker-Cohen,Shimrit Tzvi Behr,Efrat Ben-Shalom,Maria Berdaguer,Detlef Bockenhauer,Pierre Cochat,Martin Coenen,Carl H. Cramer,Georges Deschênes,Claire Dossier,Emilie Doye,Liat Feraru Feldman,Maximilian Hohenadel,Florentia Kaguelidou,Irina Libinson Zebegret,John C. Lieske,Anne Maisin,Dawn S. Milliner,Moran Plonsky Toder,Shirley Pollack,Aurélie Portefaix,Bruno Ranchin,Choni Rinat,Adnan Safdar,Gesa Schalk,Poyyapakkam R. Srivaths,Cheryl L. Tran,William Van't Hoff,Jenny Weinbrand-Goichberg,Irith Weissman
Genetics in Medicine.2021;15(10)1806
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8Characteristics of the genotype and phenotype in Chinese primary hyperoxaluria type 1 populations
Fangzhou Zhao,Jun Li,Lei Tang,Chunming Li,Wenying Wang,Chen Ning
Urolithiasis.2021;49(1)17
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