ADCK4-Associated Glomerulopathy Causes Adolescence-Onset FSGS

Hereditary defects of coenzyme Q(10) biosynthesis cause steroid-resistant nephrotic syndrome (SRNS) as part of multiorgan involvement but may also contribute to isolated SRNS. Here, we report 26 patients from 12 families with recessive mutations in ADCK4. Mutation detection rate was 1.9% among 534 c...

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Bibliografiske detaljer
Udgivet i:J Am Soc Nephrol
Main Authors: Korkmaz, Emine, Lipska-Ziętkiewicz, Beata S., Boyer, Olivia, Gribouval, Olivier, Fourrage, Cecile, Tabatabaei, Mansoureh, Schnaidt, Sven, Gucer, Safak, Kaymaz, Figen, Arici, Mustafa, Dinckan, Ayhan, Mir, Sevgi, Bayazit, Aysun K., Emre, Sevinc, Balat, Ayse, Rees, Lesley, Shroff, Rukshana, Bergmann, Carsten, Mourani, Chebl, Antignac, Corinne, Ozaltin, Fatih, Schaefer, Franz
Format: Artigo
Sprog:Inglês
Udgivet: American Society of Nephrology 2016
Fag:
Brief Communications
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4696579/
https://ncbi.nlm.nih.gov/pubmed/25967120
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1681/ASN.2014121240
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