245 related articles for article (PubMed ID: 29032433)
1. Diffuse mesangial sclerosis in a PDSS2 mutation-induced coenzyme Q10 deficiency.
Iványi B; Rácz GZ; Gál P; Brinyiczki K; Bódi I; Kalmár T; Maróti Z; Bereczki C
Pediatr Nephrol; 2018 Mar; 33(3):439-446. PubMed ID: 29032433
[TBL] [Abstract][Full Text] [Related]
2. Early myoclonic epilepsy, hypertrophic cardiomyopathy and subsequently a nephrotic syndrome in a patient with CoQ10 deficiency caused by mutations in para-hydroxybenzoate-polyprenyl transferase (COQ2).
Scalais E; Chafai R; Van Coster R; Bindl L; Nuttin C; Panagiotaraki C; Seneca S; Lissens W; Ribes A; Geers C; Smet J; De Meirleir L
Eur J Paediatr Neurol; 2013 Nov; 17(6):625-30. PubMed ID: 23816342
[TBL] [Abstract][Full Text] [Related]
3. COQ2 nephropathy: a treatable cause of nephrotic syndrome in children.
Starr MC; Chang IJ; Finn LS; Sun A; Larson AA; Goebel J; Hanevold C; Thies J; Van Hove JLK; Hingorani SR; Lam C
Pediatr Nephrol; 2018 Jul; 33(7):1257-1261. PubMed ID: 29637272
[TBL] [Abstract][Full Text] [Related]
4. Response to Early Coenzyme Q10 Supplementation Is not Sustained in CoQ10 Deficiency Caused by CoQ2 Mutation.
Eroglu FK; Ozaltin F; Gönç N; Nalçacıoğlu H; Özçakar ZB; Yalnızoğlu D; Güçer Ş; Orhan D; Eminoğlu FT; Göçmen R; Alikaşifoğlu A; Topaloğlu R; Düzova A
Pediatr Neurol; 2018 Nov; 88():71-74. PubMed ID: 30337132
[TBL] [Abstract][Full Text] [Related]
5. [Clinical analysis of one infantile nephrotic syndrome caused by COQ2 gene mutation and literature review].
Xu K; Mao XY; Yao Y; Cheng H; Zhang XJ
Zhonghua Er Ke Za Zhi; 2018 Sep; 56(9):662-666. PubMed ID: 30180404
[No Abstract] [Full Text] [Related]
6. Primary coenzyme Q10 deficiency presenting as fatal neonatal multiorgan failure.
Desbats MA; Vetro A; Limongelli I; Lunardi G; Casarin A; Doimo M; Spinazzi M; Angelini C; Cenacchi G; Burlina A; Rodriguez Hernandez MA; Chiandetti L; Clementi M; Trevisson E; Navas P; Zuffardi O; Salviati L
Eur J Hum Genet; 2015 Sep; 23(9):1254-8. PubMed ID: 25564041
[TBL] [Abstract][Full Text] [Related]
7. Primary coenzyme Q10 Deficiency-6 (COQ10D6): Two siblings with variable expressivity of the renal phenotype.
Yuruk Yildirim Z; Toksoy G; Uyguner O; Nayir A; Yavuz S; Altunoglu U; Turkkan ON; Sevinc B; Gokcay G; Kurkcu Gunes D; Kiyak A; Yilmaz A
Eur J Med Genet; 2020 Jan; 63(1):103621. PubMed ID: 30682496
[TBL] [Abstract][Full Text] [Related]
8. Clinical spectrum in multiple families with primary COQ
Hashemi SS; Zare-Abdollahi D; Bakhshandeh MK; Vafaee A; Abolhasani S; Inanloo Rahatloo K; DanaeeFard F; Farboodi N; Rohani M; Alavi A
Am J Med Genet A; 2021 Feb; 185(2):440-452. PubMed ID: 33215859
[TBL] [Abstract][Full Text] [Related]
9. Coenzyme Q10 defects may be associated with a deficiency of Q10-independent mitochondrial respiratory chain complexes.
Fragaki K; Chaussenot A; Benoist JF; Ait-El-Mkadem S; Bannwarth S; Rouzier C; Cochaud C; Paquis-Flucklinger V
Biol Res; 2016 Jan; 49():4. PubMed ID: 26742794
[TBL] [Abstract][Full Text] [Related]
10. Missense PDSS1 mutations in CoenzymeQ10 synthesis cause optic atrophy and sensorineural deafness.
Nardecchia F; De Giorgi A; Palombo F; Fiorini C; De Negri AM; Carelli V; Caporali L; Leuzzi V
Ann Clin Transl Neurol; 2021 Jan; 8(1):247-251. PubMed ID: 33285023
[TBL] [Abstract][Full Text] [Related]
11. CoQ
Kleiner G; Barca E; Ziosi M; Emmanuele V; Xu Y; Hidalgo-Gutierrez A; Qiao C; Tadesse S; Area-Gomez E; Lopez LC; Quinzii CM
Biochim Biophys Acta Mol Basis Dis; 2018 Nov; 1864(11):3708-3722. PubMed ID: 30251690
[TBL] [Abstract][Full Text] [Related]
12. Further phenotypic heterogeneity of CoQ10 deficiency associated with steroid resistant nephrotic syndrome and novel COQ2 and COQ6 variants.
Gigante M; Diella S; Santangelo L; Trevisson E; Acosta MJ; Amatruda M; Finzi G; Caridi G; Murer L; Accetturo M; Ranieri E; Ghiggeri GM; Giordano M; Grandaliano G; Salviati L; Gesualdo L
Clin Genet; 2017 Aug; 92(2):224-226. PubMed ID: 28044327
[No Abstract] [Full Text] [Related]
13. Genetic Rescue of Mitochondrial and Skeletal Muscle Impairment in an Induced Pluripotent Stem Cells Model of Coenzyme Q
Romero-Moya D; Santos-Ocaña C; Castaño J; Garrabou G; Rodríguez-Gómez JA; Ruiz-Bonilla V; Bueno C; González-Rodríguez P; Giorgetti A; Perdiguero E; Prieto C; Moren-Nuñez C; Fernández-Ayala DJ; Victoria Cascajo M; Velasco I; Canals JM; Montero R; Yubero D; Jou C; López-Barneo J; Cardellach F; Muñoz-Cánoves P; Artuch R; Navas P; Menendez P
Stem Cells; 2017 Jul; 35(7):1687-1703. PubMed ID: 28472853
[TBL] [Abstract][Full Text] [Related]
14. A family segregating lethal neonatal coenzyme Q
Smith AC; Ito Y; Ahmed A; Schwartzentruber JA; Beaulieu CL; Aberg E; Majewski J; Bulman DE; Horsting-Wethly K; Koning DV; ; Rodenburg RJ; Boycott KM; Penney LS
J Inherit Metab Dis; 2018 Jul; 41(4):719-729. PubMed ID: 29560582
[TBL] [Abstract][Full Text] [Related]
15. Secondary CoQ
Navas P; Cascajo MV; Alcázar-Fabra M; Hernández-Camacho JD; Sánchez-Cuesta A; Rodríguez ABC; Ballesteros-Simarro M; Arroyo-Luque A; Rodríguez-Aguilera JC; Fernández-Ayala DJM; Brea-Calvo G; López-Lluch G; Santos-Ocaña C
Biofactors; 2021 Jul; 47(4):551-569. PubMed ID: 33878238
[TBL] [Abstract][Full Text] [Related]
16. Oral Coenzyme Q10 supplementation leads to better preservation of kidney function in steroid-resistant nephrotic syndrome due to primary Coenzyme Q10 deficiency.
Drovandi S; Lipska-Ziętkiewicz BS; Ozaltin F; Emma F; Gulhan B; Boyer O; Trautmann A; Xu H; Shen Q; Rao J; Riedhammer KM; Heemann U; Hoefele J; Stenton SL; Tsygin AN; Ng KH; Fomina S; Benetti E; Aurelle M; Prikhodina L; Schreuder MF; Tabatabaeifar M; Jankowski M; Baiko S; Mao J; Feng C; Liu C; Sun S; Deng F; Wang X; Clavé S; Stańczyk M; Bałasz-Chmielewska I; Fila M; Durkan AM; Levart TK; Dursun I; Esfandiar N; Haas D; Bjerre A; Anarat A; Benz MR; Talebi S; Hooman N; Ariceta G; ; ; ; Schaefer F
Kidney Int; 2022 Sep; 102(3):604-612. PubMed ID: 35643375
[TBL] [Abstract][Full Text] [Related]
17. Cerebellar ataxia and severe muscle CoQ10 deficiency in a patient with a novel mutation in ADCK3.
Barca E; Musumeci O; Montagnese F; Marino S; Granata F; Nunnari D; Peverelli L; DiMauro S; Quinzii CM; Toscano A
Clin Genet; 2016 Aug; 90(2):156-60. PubMed ID: 26818466
[TBL] [Abstract][Full Text] [Related]
18. Primary coenzyme Q deficiency in Pdss2 mutant mice causes isolated renal disease.
Peng M; Falk MJ; Haase VH; King R; Polyak E; Selak M; Yudkoff M; Hancock WW; Meade R; Saiki R; Lunceford AL; Clarke CF; Gasser DL
PLoS Genet; 2008 Apr; 4(4):e1000061. PubMed ID: 18437205
[TBL] [Abstract][Full Text] [Related]
19. Early coenzyme Q10 supplementation in primary coenzyme Q10 deficiency.
Montini G; Malaventura C; Salviati L
N Engl J Med; 2008 Jun; 358(26):2849-50. PubMed ID: 18579827
[No Abstract] [Full Text] [Related]
20. [Primary coenzyme Q10 deficiency-7: a case report and literature review].
Chen XR; Xu JP; Yao YH
Zhonghua Er Ke Za Zhi; 2020 Nov; 58(11):928-932. PubMed ID: 33120466
[No Abstract] [Full Text] [Related]
[Next] [New Search]