Clinical profile of a Polish cohort of children and young adults with cystinuria-Reference-Cited by-同舟云学术

Clinical profile of a Polish cohort of children and young adults with cystinuria

Published:2020-12-22 Issue:1 Volume:43 Page:62-70
ISSN:0886-022X
Container-title:Renal Failure
language:en
Short-container-title:Renal Failure

Author:

Tkaczyk Marcin¹²,Gadomska-Prokop Katarzyna³,Załuska-Leśniewska Iga⁴,Musiał Kinga⁵,Zawadzki Jan³,Jobs Katarzyna⁶,Porowski Tadeusz⁷,Rogowska-Kalisz Anna¹,Jander Anna¹,Kirolos Merit¹,Haliński Adam⁸,Krzemień Aleksandra⁹,Sobieszczańska-Droździel Aleksandra¹⁰,Zachwieja Katarzyna¹¹,Beck Bodo B.¹²,Sikora Przemysław¹⁰,Zaniew Marcin¹³

Affiliation:

1. Department of Pediatrics, Immunology and Nephrology, Polish Mother’s Memorial Hospital Research Institute, Łódź, Poland

2. Division of Didactics in Pediatrics, Medical University of Łódź, Łódź, Poland

3. Department of Nephrology, Transplantation and Hypertension, Children’s Memorial Health Institute, Warsaw, Poland

4. Department of Pediatric Nephrology and Hypertension, Medical University of Gdańsk, Gdańsk, Poland

5. Department of Pediatric Nephrology, Medical University of Wrocław, Wrocław, Poland

6. Department of Pediatrics, Allergology and Nephrology, Military Medical Institute, Warsaw, Poland

7. Department of Pediatrics and Nephrology, Medical University of Białystok, Białystok, Poland

8. Department of Clinical Genetics and Pathology, University of Zielona Góra, Zielona Góra, Poland

9. Department of Pediatric Nephrology, Upper-Silesian Centre for Child's Health, Katowice, Poland

10. Department of Pediatric Nephrology, Medical University of Lublin, Lublin, Poland

11. Department of Pediatric Nephrology, Collegium Medicum Jagiellonian University, Krakow, Poland

12. Institute of Human Genetics and Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany

13. Department of Pediatrics, University of Zielona Góra, Zielona Góra, Poland

Publisher

Informa UK Limited

Subject

Nephrology,Critical Care and Intensive Care Medicine,General Medicine

Link

https://www.tandfonline.com/doi/pdf/10.1080/0886022X.2020.1860089

Reference17 articles.

1. Cystinuria in childhood and adolescence: recommendations for diagnosis, treatment, and follow-up

2. How should patients with cystine stone disease be evaluated and treated in the twenty-first century?

3. Hereditary causes of kidney stones and chronic kidney disease

4. Cystinuria: mechanisms and management

5. New insights into cystinuria: 40 new mutations, genotype-phenotype correlation, and digenic inheritance causing partial phenotype

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1. Interpretation of SLC3A1 and SLC7A9 variants in cystinuria patients: The significance of the PM3 criterion and protein stability;Urolithiasis;2023-07-13

2. Extracorporeal Shockwave Lithotripsy for Cystine Stones in Children: An Observational, Retrospective, Single-Center Analysis;Frontiers in Pediatrics;2021-11-16