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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Detalhes bibliográficos
Publicado no: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
Formato: Artigo
Idioma:Inglês
Publicado em: American Society of Nephrology 2016
Assuntos:
Brief Communications
Acesso em linha: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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