1124 related articles for article (PubMed ID: 19265687)
1. Novel mutations in ETFDH gene in Chinese patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.
Law LK; Tang NL; Hui J; Fung SL; Ruiter J; Wanders RJ; Fok TF; Lam CW
Clin Chim Acta; 2009 Jun; 404(2):95-9. PubMed ID: 19265687
[TBL] [Abstract][Full Text] [Related]
2. High resolution melting analysis facilitates mutation screening of ETFDH gene: applications in riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.
Er TK; Liang WC; Chang JG; Jong YJ
Clin Chim Acta; 2010 May; 411(9-10):690-9. PubMed ID: 20138856
[TBL] [Abstract][Full Text] [Related]
3. Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency.
Olsen RK; Andresen BS; Christensen E; Bross P; Skovby F; Gregersen N
Hum Mutat; 2003 Jul; 22(1):12-23. PubMed ID: 12815589
[TBL] [Abstract][Full Text] [Related]
4. Characterization of two ETFDH mutations in a novel case of riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.
Missaglia S; Tavian D; Moro L; Angelini C
Lipids Health Dis; 2018 Nov; 17(1):254. PubMed ID: 30424791
[TBL] [Abstract][Full Text] [Related]
5. Molecular analysis of 51 unrelated pedigrees with late-onset multiple acyl-CoA dehydrogenation deficiency (MADD) in southern China confirmed the most common ETFDH mutation and high carrier frequency of c.250G>A.
Wang ZQ; Chen XJ; Murong SX; Wang N; Wu ZY
J Mol Med (Berl); 2011 Jun; 89(6):569-76. PubMed ID: 21347544
[TBL] [Abstract][Full Text] [Related]
6. Determinants of Riboflavin Responsiveness in Multiple Acyl-CoA Dehydrogenase Deficiency.
Yıldız Y; Talim B; Haliloglu G; Topaloglu H; Akçören Z; Dursun A; Sivri HS; Coşkun T; Tokatlı A
Pediatr Neurol; 2019 Oct; 99():69-75. PubMed ID: 31331668
[TBL] [Abstract][Full Text] [Related]
7. A novel electron transfer flavoprotein dehydrogenase (ETFDH) gene mutation identified in a newborn with glutaric acidemia type II: a case report of a Chinese family.
Ou M; Zhu L; Zhang Y; Zhang Y; Zhou J; Zhang Y; Chen X; Yang L; Li T; Su X; Hu Q; Wang W
BMC Med Genet; 2020 May; 21(1):98. PubMed ID: 32393189
[TBL] [Abstract][Full Text] [Related]
8. Molecular and Clinical Investigations on Portuguese Patients with Multiple acyl-CoA Dehydrogenase Deficiency.
Henriques BJ; Lucas TG; Martins E; Gaspar A; Bandeira A; Nogueira C; Brandão O; Rocha H; Vilarinho L; Gomes CM
Curr Mol Med; 2019; 19(7):487-493. PubMed ID: 31418342
[TBL] [Abstract][Full Text] [Related]
9. Increased muscle coenzyme Q10 in riboflavin responsive MADD with ETFDH gene mutations due to secondary mitochondrial proliferation.
Wen B; Li D; Shan J; Liu S; Li W; Zhao Y; Lin P; Zheng J; Li D; Gong Y; Yan C
Mol Genet Metab; 2013 Jun; 109(2):154-60. PubMed ID: 23628458
[TBL] [Abstract][Full Text] [Related]
10. Multiple acyl-CoA-dehydrogenase deficiency (MADD)--a novel mutation of electron-transferring-flavoprotein dehydrogenase ETFDH.
Lämmer AB; Rolinski B; Ahting U; Heuss D
J Neurol Sci; 2011 Aug; 307(1-2):166-7. PubMed ID: 21616504
[TBL] [Abstract][Full Text] [Related]
11. A novel ETFDH mutation in an adult patient with late-onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.
Chen M; Peng J; Wei W; Wang R; Xu H; Liu H
Int J Neurosci; 2018 Mar; 128(3):291-294. PubMed ID: 28914566
[TBL] [Abstract][Full Text] [Related]
12. Significant clinical heterogeneity with similar ETFDH genotype in three Chinese patients with late-onset multiple acyl-CoA dehydrogenase deficiency.
Fu HX; Liu XY; Wang ZQ; Jin M; Wang DN; He JJ; Lin MT; Wang N
Neurol Sci; 2016 Jul; 37(7):1099-105. PubMed ID: 27000805
[TBL] [Abstract][Full Text] [Related]
13. Late-onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (MADD): case reports and epidemiology of ETFDH gene mutations.
Chen W; Zhang Y; Ni Y; Cai S; Zheng X; Mastaglia FL; Wu J
BMC Neurol; 2019 Dec; 19(1):330. PubMed ID: 31852447
[TBL] [Abstract][Full Text] [Related]
14. ETFDH mutations, CoQ10 levels, and respiratory chain activities in patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.
Liang WC; Ohkuma A; Hayashi YK; López LC; Hirano M; Nonaka I; Noguchi S; Chen LH; Jong YJ; Nishino I
Neuromuscul Disord; 2009 Mar; 19(3):212-6. PubMed ID: 19249206
[TBL] [Abstract][Full Text] [Related]
15. The ETFDH c.158A>G variation disrupts the balanced interplay of ESE- and ESS-binding proteins thereby causing missplicing and multiple Acyl-CoA dehydrogenation deficiency.
Olsen RK; Brøner S; Sabaratnam R; Doktor TK; Andersen HS; Bruun GH; Gahrn B; Stenbroen V; Olpin SE; Dobbie A; Gregersen N; Andresen BS
Hum Mutat; 2014 Jan; 35(1):86-95. PubMed ID: 24123825
[TBL] [Abstract][Full Text] [Related]
16. Patient with multiple acyl-CoA dehydrogenase deficiency disease and ETFDH mutations benefits from riboflavin therapy: a case report.
Goh LL; Lee Y; Tan ES; Lim JSC; Lim CW; Dalan R
BMC Med Genomics; 2018 Apr; 11(1):37. PubMed ID: 29615056
[TBL] [Abstract][Full Text] [Related]
17. High frequency of ETFDH c.250G>A mutation in Taiwanese patients with late-onset lipid storage myopathy.
Lan MY; Fu MH; Liu YF; Huang CC; Chang YY; Liu JS; Peng CH; Chen SS
Clin Genet; 2010 Dec; 78(6):565-9. PubMed ID: 20370797
[TBL] [Abstract][Full Text] [Related]
18. Riboflavin-responsive lipid-storage myopathy caused by ETFDH gene mutations.
Wen B; Dai T; Li W; Zhao Y; Liu S; Zhang C; Li H; Wu J; Li D; Yan C
J Neurol Neurosurg Psychiatry; 2010 Feb; 81(2):231-6. PubMed ID: 19758981
[TBL] [Abstract][Full Text] [Related]
19. Electron transfer flavoprotein deficiency: functional and molecular aspects.
Schiff M; Froissart R; Olsen RK; Acquaviva C; Vianey-Saban C
Mol Genet Metab; 2006 Jun; 88(2):153-8. PubMed ID: 16510302
[TBL] [Abstract][Full Text] [Related]
20. Riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency with unknown genetic defect.
Cotelli MS; Vielmi V; Rimoldi M; Rizzetto M; Castellotti B; Bertasi V; Todeschini A; Gregorelli V; Baronchelli C; Gellera C; Padovani A; Filosto M
Neurol Sci; 2012 Dec; 33(6):1383-7. PubMed ID: 22190129
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
