Updated genetic testing of Italian patients referred with a clinical diagnosis of primary hyperoxaluria-Reference-Cited by-同舟云学术

Updated genetic testing of Italian patients referred with a clinical diagnosis of primary hyperoxaluria

Published:2016-03-05 Issue:2 Volume:30 Page:219-225
ISSN:1121-8428
Container-title:Journal of Nephrology
language:en
Short-container-title:J Nephrol

Author:

Pelle Alessandra,Cuccurullo Alessandra,Mancini Cecilia,Sebastiano Regina,Stallone Giovanni,Negrisolo Susanna,Benetti Elisa,Peruzzi Licia,Petrarulo Michele,De Marchi Mario,Marangella Martino,Amoroso Antonio,Giachino Daniela,Mandrile Giorgia

Funder

Fondazione Telethon

Publisher

Springer Science and Business Media LLC

Subject

Nephrology

Link

http://link.springer.com/content/pdf/10.1007/s40620-016-0287-4.pdf

Reference30 articles.

1. Beck BB, Hoyer-Kuhn H, Goebel H et al (2013) Hyperoxaluria and systemic oxalosis: an update on current therapy and future directions. Expert Opin Investig Drugs 22(1):117–129

2. Leumann E, Hoppe B (2001) The primary hyperoxalurias. J Am Soc Nephrol 12(9):1986–1993

3. Cochat P, Hulton SA, Acquaviva C et al (2012) Primary hyperoxaluria Type 1: indications for screening and guidance for diagnosis and treatment. Nephrol Dial Transplant 27(5):1729–1736

4. Hoppe B, Beck BB, Milliner DS (2009) The primary hyperoxalurias. Kidney Int 75(12):1264–1271

5. Cregeen DP, Williams EL, Hulton S, Rumsby G (2003) Molecular analysis of the glyoxylate reductase (GRHPR) gene and description of mutations underlying primary hyperoxaluria type 2. Hum Mutat 22(6):497

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. HOGA1 variants in Chinese patients with primary hyperoxaluria type 3: genetic features and genotype–phenotype relationships;World Journal of Urology;2023-06-15

2. HOGA1 gene pathogenic variants in primary hyperoxaluria type III: Spectrum of pathogenic sequence variants, and phenotypic association;Human Mutation;2022-11-02

3. Genetic assessment in primary hyperoxaluria: why it matters;Pediatric Nephrology;2022-06-13

4. Primary hyperoxaluria in Italy: the past 30 years and the near future of a (not so) rare disease;Journal of Nephrology;2022-02-26

5. A report from the European Hyperoxaluria Consortium (OxalEurope) Registry on a large cohort of patients with primary hyperoxaluria type 3;KIDNEY INT;2021