Encefalopatía, fallo renal y retinopatía. Déficit de CoQ10 por mutación de COQ8B
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Published in | Anales de pediatría (Barcelona, Spain : 2003) Vol. 94; no. 6; pp. 415 - 417 |
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Main Authors | , , , , |
Format | Journal Article |
Language | Spanish |
Published |
Elsevier España, S.L.U
01.06.2021
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Subjects | |
Online Access | Get full text |
ISSN | 1695-4033 1695-9531 |
DOI | 10.1016/j.anpedi.2020.05.019 |
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Author | Justa Roldán, María Luisa García Jiménez, María Concepción Romero Salas, Yolanda Adán Lanceta, Víctor Ariceta Iraola, Gema |
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Author_xml | – sequence: 1 givenname: Víctor surname: Adán Lanceta fullname: Adán Lanceta, Víctor email: victoradanlanceta@gmail.com organization: Servicio de Pediatría, Hospital Obispo Polanco, Teruel, España – sequence: 2 givenname: Yolanda surname: Romero Salas fullname: Romero Salas, Yolanda organization: Unidad de Nefrología Pediátrica, Hospital Infantil Universitario Miguel Servet, Zaragoza, España – sequence: 3 givenname: María Luisa surname: Justa Roldán fullname: Justa Roldán, María Luisa organization: Unidad de Nefrología Pediátrica, Hospital Infantil Universitario Miguel Servet, Zaragoza, España – sequence: 4 givenname: María Concepción surname: García Jiménez fullname: García Jiménez, María Concepción organization: Unidad de Metabolopatías, Hospital Universitario Miguel Servet, Zaragoza, España – sequence: 5 givenname: Gema surname: Ariceta Iraola fullname: Ariceta Iraola, Gema organization: Servicio de Nefrología Pediátrica, Hospital Vall d’Hebron, Barcelona, España |
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DocumentTitleAlternate | Encephalopathy, kidney failure and retinopathy. CoQ10 deficiency due to COQ8B mutation |
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References | Vazquez Fonseca, Doimo, Calderan, Desbats, Acosta, Cerqua (bib0040) 2018; 39 Desbats, Lunardi, Doimo, Trevisson, Salviati (bib0035) 2015; 38 Korkmaz, Lipska-Zietkiewicz, Boyer, Gribouval, Fourrage, Tabatabaei (bib0050) 2016; 27 Lovric, Ashraf, Tan, Hildebrandt (bib0060) 2016; 31 Feng, Wang, Wang, Liu, Shen, Fu (bib0055) 2017; 96 Ashraf, Gee, Woerner, Xie, Vega-Warner, Lovric (bib0045) 2013; 123 Feng (10.1016/j.anpedi.2020.05.019_bib0055) 2017; 96 Desbats (10.1016/j.anpedi.2020.05.019_bib0035) 2015; 38 Vazquez Fonseca (10.1016/j.anpedi.2020.05.019_bib0040) 2018; 39 Ashraf (10.1016/j.anpedi.2020.05.019_bib0045) 2013; 123 Korkmaz (10.1016/j.anpedi.2020.05.019_bib0050) 2016; 27 Lovric (10.1016/j.anpedi.2020.05.019_bib0060) 2016; 31 |
References_xml | – volume: 38 start-page: 145 year: 2015 end-page: 156 ident: bib0035 article-title: Genetic bases and clinical manifestations of coenzyme Q10 (CoQ10) deficiency publication-title: J Inherit Metab Dis. – volume: 39 start-page: 406 year: 2018 end-page: 414 ident: bib0040 article-title: Mutations in COQ8B (ADCK4) found in patients with steroid resistant nephrotic syndrome alter COQ8B function publication-title: Human Mutation. – volume: 27 start-page: 63 year: 2016 end-page: 68 ident: bib0050 article-title: ADCK4-associated glomerulopathy causes adolescence-onset FSGS publication-title: J Am Soc Nephrol – volume: 123 start-page: 5179 year: 2013 end-page: 5189 ident: bib0045 article-title: ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption publication-title: J Clin Invest. – volume: 96 start-page: e8880 year: 2017 ident: bib0055 article-title: Coenzyme Q10 supplementation therapy for 2 children with proteinuria renal disease and ADCK4 mutation: Case reports and literature review publication-title: Medicine (Baltimore). – volume: 31 start-page: 1813 year: 2016 end-page: 1821 ident: bib0060 article-title: Genetic testing in steroid-resistant nephrotic syndrome: When and how? publication-title: Nephrol Dial Transplant – volume: 96 start-page: e8880 year: 2017 ident: 10.1016/j.anpedi.2020.05.019_bib0055 article-title: Coenzyme Q10 supplementation therapy for 2 children with proteinuria renal disease and ADCK4 mutation: Case reports and literature review publication-title: Medicine (Baltimore). doi: 10.1097/MD.0000000000008880 – volume: 123 start-page: 5179 year: 2013 ident: 10.1016/j.anpedi.2020.05.019_bib0045 article-title: ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption publication-title: J Clin Invest. doi: 10.1172/JCI69000 – volume: 31 start-page: 1813 year: 2016 ident: 10.1016/j.anpedi.2020.05.019_bib0060 article-title: Genetic testing in steroid-resistant nephrotic syndrome: When and how? publication-title: Nephrol Dial Transplant doi: 10.1093/ndt/gfv355 – volume: 38 start-page: 145 year: 2015 ident: 10.1016/j.anpedi.2020.05.019_bib0035 article-title: Genetic bases and clinical manifestations of coenzyme Q10 (CoQ10) deficiency publication-title: J Inherit Metab Dis. doi: 10.1007/s10545-014-9749-9 – volume: 39 start-page: 406 year: 2018 ident: 10.1016/j.anpedi.2020.05.019_bib0040 article-title: Mutations in COQ8B (ADCK4) found in patients with steroid resistant nephrotic syndrome alter COQ8B function publication-title: Human Mutation. doi: 10.1002/humu.23376 – volume: 27 start-page: 63 year: 2016 ident: 10.1016/j.anpedi.2020.05.019_bib0050 article-title: ADCK4-associated glomerulopathy causes adolescence-onset FSGS publication-title: J Am Soc Nephrol doi: 10.1681/ASN.2014121240 |
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Title | Encefalopatía, fallo renal y retinopatía. Déficit de CoQ10 por mutación de COQ8B |
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