Atypical onset of nephropathic infantile cystinosis in a Russian patient with rare CTNS mutation-Reference-Cited by-同舟云学术

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Atypical onset of nephropathic infantile cystinosis in a Russian patient with rare CTNS mutation

Published:2018-08-11 Issue:9 Volume:6 Page:1871-1876
ISSN:2050-0904
Container-title:Clinical Case Reports
language:en
Short-container-title:Clin Case Rep

Author:

Anastasiya Kozina A.¹²,Elena Okuneva G.²,Natalia Baryshnikova V.²³,Anna Krasnenko Yu.²,Kirill Tsukanov Yu.²,Olesya Klimchuk I.²,Tatiana Nikishina A.⁴,Inessa Fedoniuk D.⁵,Ekaterina Surkova I.²^ORCID,Peter Shatalov A.²⁴,Valery Ilinsky V.¹²⁶

Affiliation:

1. Institute of Biomedical Chemistry; Moscow Russia

2. Genotek Ltd.; Moscow Russia

3. Pirogov Russian National Research Medical University; Moscow Russia

4. Veltischev Research and Clinical Institute for Pediatrics of the Pirogov Russian National Research Medical University; Moscow Russia

5. Russian Children's Clinical Hospital; Moscow Russia

6. Vavilov Institute of General Genetics; Moscow Russia

Funder

Russian Academy of Sciences

Publisher

Wiley

Subject

General Medicine

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ccr3.1678/fullpdf

Reference19 articles.

1. Cystinosis;Gahl;N Engl J Med,2002

2. Ocular nonnephropathic cystinosis: clinical, biochemical, and molecular correlations;Anikster;Pediatr Res,2000

3. Nephropathic cystinosis: late complications of a multisystemic disease;Nesterova;Pediatr Nephrol,2008

4. A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis;Town;Nat Genet,1998

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1. Nephropathic cystinosis in Poland: a 40-year retrospective study;Polish Archives of Internal Medicine;2022-08-22

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