237 related articles for article (PubMed ID: 26349199)
21. 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]
22. 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]
23. 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]
24. Rhabdomyolysis and respiratory insufficiency due to the common ETFDH mutation of c.250G>A in two patients with late-onset multiple acyl-CoA dehydrogenase deficiency.
Chen HZ; Jin M; Cai NQ; Lin XD; Liu XY; Xu LQ; Lin MT; Lin F; Wang N; Wang ZQ; Xu GR
Chin Med J (Engl); 2019 Jul; 132(13):1615-1618. PubMed ID: 31058673
[TBL] [Abstract][Full Text] [Related]
25. A 3-Month-Old Boy With Progressive Weakness.
Kim SY; Ko JM; Choi SA; Cho A; Lee JS; Lim BC; Kim KJ; Chae JH
Brain Pathol; 2018 Sep; 28(5):773-774. PubMed ID: 30375113
[No Abstract] [Full Text] [Related]
26. Clinical characteristics and gene mutation analysis of an adult patient with ETFDH‑related multiple acyl‑CoA dehydrogenase deficiency.
Wang C; Lv H; Xu X; Ma Y; Li Q
Mol Med Rep; 2020 Nov; 22(5):4396-4402. PubMed ID: 33000234
[TBL] [Abstract][Full Text] [Related]
27. 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]
28. A case report on multiple acyl-CoA dehydrogenase deficiency with severe myopathy and osteoporosis.
Li M; Lin ZH; Chen YC; Lin P; Xie YX; Wei JC
Int J Rheum Dis; 2024 Jan; 27(1):e14906. PubMed ID: 37737545
[TBL] [Abstract][Full Text] [Related]
29. Pregnancy of a patient with multiple Acyl-CoA dehydrogenation deficiency (MADD).
Trakadis Y; Kadlubowska D; Barnes R; Mitchell J; Spector E; Frerman F; Melancon S
Mol Genet Metab; 2012 Aug; 106(4):491-4. PubMed ID: 22664151
[TBL] [Abstract][Full Text] [Related]
30. Two novel ETFDH mutations in a patient with lipid storage myopathy.
Xu HL; Lian YJ; Chen X; Zhang L; Cheng X
Chin Med J (Engl); 2019 Aug; 132(15):1876-1878. PubMed ID: 31306230
[TBL] [Abstract][Full Text] [Related]
31. 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]
32. 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]
33. 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]
34. ETF dehydrogenase advances in molecular genetics and impact on treatment.
Missaglia S; Tavian D; Angelini C
Crit Rev Biochem Mol Biol; 2021 Aug; 56(4):360-372. PubMed ID: 33823724
[TBL] [Abstract][Full Text] [Related]
35. ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency.
Olsen RK; Olpin SE; Andresen BS; Miedzybrodzka ZH; Pourfarzam M; Merinero B; Frerman FE; Beresford MW; Dean JC; Cornelius N; Andersen O; Oldfors A; Holme E; Gregersen N; Turnbull DM; Morris AA
Brain; 2007 Aug; 130(Pt 8):2045-54. PubMed ID: 17584774
[TBL] [Abstract][Full Text] [Related]
36. Compound heterozygous mutations in electron transfer flavoprotein dehydrogenase identified in a young Chinese woman with late-onset glutaric aciduria type II.
Xue Y; Zhou Y; Zhang K; Li L; Kayoumu A; Chen L; Wang Y; Lu Z
Lipids Health Dis; 2017 Sep; 16(1):185. PubMed ID: 28950901
[TBL] [Abstract][Full Text] [Related]
37. [A novel mutation in the ETFDH gene of an infant with multiple acyl-CoA dehydrogenase deficiency].
Gao A; Qiao LW; Duan CY; Zhao NN; Zhang W; Zhang Q
Zhongguo Dang Dai Er Ke Za Zhi; 2018 Jul; 20(7):529-533. PubMed ID: 30022752
[TBL] [Abstract][Full Text] [Related]
38. Characterization of
Ali A; Dhahouri NA; Almesmari FSA; Fathalla WM; Jasmi FA
Genes (Basel); 2021 May; 12(5):. PubMed ID: 34066864
[TBL] [Abstract][Full Text] [Related]
39. 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]
40. ETFDH Mutations and Flavin Adenine Dinucleotide Homeostasis Disturbance Are Essential for Developing Riboflavin-Responsive Multiple Acyl-Coenzyme A Dehydrogenation Deficiency.
Xu J; Li D; Lv J; Xu X; Wen B; Lin P; Liu F; Ji K; Shan J; Li H; Li W; Zhao Y; Zhao D; Pok JY; Yan C
Ann Neurol; 2018 Nov; 84(5):659-673. PubMed ID: 30232818
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
