Molecular analysis of the AGXT gene in Syrian patients suspected with primary hyperoxaluria type 1

by Hossam Murad, Mohamad Baseel Alhalabi, Amir Dabboul, Nour Alfakseh, Mohamad Sayah Nweder, Youssef Zghib, Hala Wannous
Published 2021-06-01

Lanthanum carbonate to control plasma and urinary oxalate level in type 1 primary hyperoxaluria?

by Agnieszka Pozdzik, Cristina David, Jelle Vekeman, Frederik Tielens, Michel Daudon
Published 2021-07-01

Identification of compound heterozygous patients with primary hyperoxaluria type 1: clinical evaluations and in silico investigations

by Houda Kanoun, Faiçal Jarraya, Bayen Maalej, Amina Lahiani, Hichem Mahfoudh, Fatma Makni, Jamil Hachicha, Faiza Fakhfakh
Published 2017-10-01

Primary hyperoxaluria Type 1 with homozygosity for a double-mutated AGXT allele in a 2-year-old child

by S Krishnamurthy, G B Kartha, V S Venkateswaran, M Prasannakumar, S Mahadevan, M Gowda, A Pelle, D Giachino
Published 2017-01-01

Unusual clinical outcome of primary Hyperoxaluria type 1 in Tunisian patients carrying 33_34InsC mutation

by Ibtihel Benhaj Mbarek, Saoussen Mdimeg, Amira Moussa, Dorsaf Zellama, Hayat Kaarout, Jaouida Abdelmoula, Abdellatif Achour, Saoussen Abroug, Asma Omezzine, Ali Bouslama
Published 2017-06-01

Recurrent truncating mutations in alanine-glyoxylate aminotransferase gene in two South Indian families with primary hyperoxaluria type 1 causing later onset end-stage kidney disea...

by A K Dutta, B K Paulose, S Danda, S Alexander, V Tamilarasi, S Omprakash
Published 2016-01-01

A novel nonsense variant of the AGXT identified in a Chinese family: special variant research in the Chinese reference genome

by 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
Published 2021-03-01

Knockdown of lactate dehydrogenase by adeno‐associated virus‐delivered CRISPR/Cas9 system alleviates primary hyperoxaluria type 1

by Rui Zheng, Xiaoliang Fang, Xi Chen, Yunteng Huang, Guofeng Xu, Lei He, Yueyan Li, Xuran Niu, Lei Yang, Liren Wang, Dali Li, Hongquan Geng
Published 2020-12-01

Combined liver-kidney transplant in a 21-month-old child with type 1 primary hyperoxaluria—The perioperative challenges

by Nidhin Eldo, Sangeeth P Srinivasan, Nisha Rajmohan, Mathew Jacob
Published 2020-01-01

Primary Hyperoxaluria Type 1 Disease Manifestations and Healthcare Utilization: A Multi-Country, Online, Chart Review Study

by Xiangling Wang, David Danese, Thomas Brown, Jessica Baldwin, Gautam Sajeev, Erin E. Cook, Yao Wang, Chunyi Xu, Hongbo Yang, Michael L. Moritz
Published 2021-09-01