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

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

Published:2017-06-15 Issue:1 Volume:18 Page:
ISSN:1471-2369
Container-title:BMC Nephrology
language:en
Short-container-title:BMC Nephrol

Author:

Mbarek Ibtihel Benhaj,Mdimeg Saoussen,Moussa Amira,Zellama Dorsaf,Kaarout Hayat,Abdelmoula Jaouida,Achour Abdellatif,Abroug Saoussen,Omezzine Asma,Bouslama Ali

Funder

Tunisian Ministry of Health and Ministry of Higher Education and Scientific Research

Publisher

Springer Science and Business Media LLC

Subject

Nephrology

Link

http://link.springer.com/content/pdf/10.1186/s12882-017-0612-8.pdf

Reference27 articles.

1. Spasovski G, Beck BB, Blau N, Hoppe B, Tasic V. Late diagnosis of primary hyperoxaluria after failed kidney transplantation. Int Urol Nephrol. 2010;42:825–9.

2. Cochat P, Hulton SA, Acquaviva C, Danpure CJ, Daudon M, De Marchi M, et al. Primary hyperoxaluria type 1: indications for screening and guidance for diagnosis and treatment. Nephrol Dial Transplant. 2012;27:1729–36.

3. Hoppe B, Beck BB, Milliner DS. The primary hyperoxalurias. Kidney Int. 2009;75:1264–71.

4. Cochat P, Liutkus A, Fargue S, Basmaison O, Ranchin B, Rolland MO. Primary hyperoxaluria type 1: still challenging! Pediatr Nephrol. 2006;21:1075–81.

5. Cochat P, Deloraine A, Rotily M, Olive F, Liponski I, Deries N. Epidemiology of primary hyperoxaluria type 1. Nephrol Dial Transplant. 1995;10:3–7.

Cited by 10 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. Intrafamilial Disease Heterogeneity in Primary Hyperoxaluria Type 1;Kidney International Reports;2024-07

2. Case series and literature review of primary hyperoxaluria type 1 in Chinese patients;Urolithiasis;2023-10-24

3. Genotype and Phenotype Characteristics of Chinese Pediatric Patients with Primary Hyperoxaluria;Human Mutation;2023-09-14

4. Primary Hyperoxaluria Type 1: Clinical, Paraclinical, and Evolutionary Aspects in Adults from One Nephrology Center;International Journal of Nephrology;2023-07-19

5. Four novel variants identified in primary hyperoxaluria and genotypic and phenotypic analysis in 21 Chinese patients;Frontiers in Genetics;2023-04-17