A no-nonsense approach to hereditary kidney disease-Reference-Cited by-同舟云学术

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A no-nonsense approach to hereditary kidney disease

Published:2019-12-05 Issue:11 Volume:35 Page:2031-2042
ISSN:0931-041X
Container-title:Pediatric Nephrology
language:en
Short-container-title:Pediatr Nephrol

Author:

Tokhmafshan Fatima,Dickinson Kyle,Akpa Murielle M.,Brasell Emma,Huertas Pedro,Goodyer Paul R.^ORCID

Funder

Kidney Foundation of Canada

Canadian Institutes of Health Research

Fonds de Recherche du Québec - Santé

Génome Québec

Genome Canada

Cystinosis Research Foundation

Publisher

Springer Science and Business Media LLC

Subject

Nephrology,Pediatrics, Perinatology, and Child Health

Link

http://link.springer.com/content/pdf/10.1007/s00467-019-04394-5.pdf

Reference127 articles.

1. Frischmeyer PA, Dietz HC (1999) Nonsense-mediated mRNA decay in health and disease. Hum Mol Genet 8:1893–1900

2. Mort M, Ivanov D, Cooper DN, Chuzhanova NA (2008) A meta-analysis of nonsense mutations causing human genetic disease. Hum Mutat 29:1037–1047

3. Hildebrandt F (2010) Genetic kidney diseases. Lancet 375:1287–1295

4. Connaughton DM, Hildebrandt F (2019) Personalized medicine in chronic kidney disease by detection of monogenic mutations. Nephrol Dial Transplant. https://doi.org/10.1093/ndt/gfz028

5. Howard M, Frizzell RA, Bedwell DM (1996) Aminoglycoside antibiotics restore CFTR function by overcoming premature stop mutations. Nat Med 2:467–469

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1. Aminoaciduria and Glycosuria in Children;Pediatric Nephrology;2022

2. Aminoaciduria and Glycosuria in Children;Pediatric Nephrology;2021

3. Evaluation and Medical Management of Patients with Cystine Nephrolithiasis: A Consensus Statement;Journal of Endourology;2020-11-01

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