326 related articles for article (PubMed ID: 20370797)
1. 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]
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. 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]
4. 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]
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. 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]
7. 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]
8. 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]
9. 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]
10. 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]
11. Multiple acyl-CoA dehydrogenase deficiency (MADD) as a cause of late-onset treatable metabolic disease.
Béhin A; Acquaviva-Bourdain C; Souvannanorath S; Streichenberger N; Attarian S; Bassez G; Brivet M; Fouilhoux A; Labarre-Villa A; Laquerrière A; Pérard L; Kaminsky P; Pouget J; Rigal O; Vanhulle C; Eymard B; Vianey-Saban C; Laforêt P
Rev Neurol (Paris); 2016 Mar; 172(3):231-41. PubMed ID: 27038534
[TBL] [Abstract][Full Text] [Related]
12. [Mutation analysis for a family affected with riboflavin responsive-multiple acyl-CoA dehydrogenase deficiency].
Lu J; Ji L
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2014 Aug; 31(4):428-32. PubMed ID: 25119904
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. 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]
15. Multiple acyl-CoA dehydrogenation deficiency as decreased acyl-carnitine profile in serum.
Wen B; Li D; Li W; Zhao Y; Yan C
Neurol Sci; 2015 Jun; 36(6):853-9. PubMed ID: 25827849
[TBL] [Abstract][Full Text] [Related]
16. Neurite growth could be impaired by ETFDH mutation but restored by mitochondrial cofactors.
Liang WC; Lin YF; Liu TY; Chang SC; Chen BH; Nishino I; Jong YJ
Muscle Nerve; 2017 Sep; 56(3):479-485. PubMed ID: 27935074
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. Severe sensory neuropathy in patients with adult-onset multiple acyl-CoA dehydrogenase deficiency.
Wang Z; Hong D; Zhang W; Li W; Shi X; Zhao D; Yang X; Lv H; Yuan Y
Neuromuscul Disord; 2016 Feb; 26(2):170-5. PubMed ID: 26821934
[TBL] [Abstract][Full Text] [Related]
19. Clinical features and ETFDH mutation spectrum in a cohort of 90 Chinese patients with late-onset multiple acyl-CoA dehydrogenase deficiency.
Xi J; Wen B; Lin J; Zhu W; Luo S; Zhao C; Li D; Lin P; Lu J; Yan C
J Inherit Metab Dis; 2014 May; 37(3):399-404. PubMed ID: 24357026
[TBL] [Abstract][Full Text] [Related]
20. Central nervous system and muscle involvement in an adolescent patient with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.
Ishii K; Komaki H; Ohkuma A; Nishino I; Nonaka I; Sasaki M
Brain Dev; 2010 Sep; 32(8):669-72. PubMed ID: 19783111
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
