Long-term kidney function of Lowe syndrome: a nationwide study of paediatric and adult patients-Reference-Cited by-同舟云学术

Long-term kidney function of Lowe syndrome: a nationwide study of paediatric and adult patients

Published:2024-04-03 Issue:8 Volume:39 Page:1360-1363
ISSN:0931-0509
Container-title:Nephrology Dialysis Transplantation
language:en
Short-container-title:

Author:

Ando Taro¹,Miura Kenichiro¹,Yabuuchi Tomoo¹,Shirai Yoko¹^ORCID,Ishizuka Kiyonobu¹,Kanda Shoichiro²,Harita Yutaka²^ORCID,Hirasawa Kyoko³,Hamada Riku⁴,Ishikura Kenji⁵,Inoue Eisuke⁶,Hattori Motoshi¹

Affiliation:

1. Department of Pediatric Nephrology, Tokyo Women's Medical University , Tokyo , Japan

2. Department of Pediatrics, the University of Tokyo , Tokyo , Japan

3. Department of Pediatric, Tokyo Women's Medical University , Tokyo , Japan

4. Department of Nephrology, Tokyo Metropolitan Children's Medical Center , Tokyo , Japan

5. Department of Pediatrics, Kitasato University , Kanagawa , Japan

6. Showa University Research Administration Center , Tokyo , Japan

Funder

Research on Rare and Intractable Diseases, Health and Labor Sciences Research

Ministry of Health, Labour and Welfare

Publisher

Oxford University Press (OUP)

Link

https://academic.oup.com/ndt/advance-article-pdf/doi/10.1093/ndt/gfae080/58248892/gfae080.pdf

Reference14 articles.

1. Organic aciduria, decreased renal ammonia production, hydrophthalmos, and mental retardation: a clinical entity;Lowe;Am J Dis Child,1952

2. Lowe syndrome;Loi;Orphanet J Rare Dis,2006

3. Physical mapping and genomic structure of the Lowe syndrome gene OCRL1;Nussbaum;Hum Genet,1997

4. The cellular and physiological functions of the Lowe syndrome protein OCRL1;Mehta;Traffic,2014

5. Long-term renal outcome in children with OCRL mutations: retrospective analysis of a large international cohort;Zaniew;Nephrol Dial Transplant,2018