BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

345 related articles for article (PubMed ID: 20138856)

  • 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. 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]  

  • 23. Molecular mechanisms of riboflavin responsiveness in patients with ETF-QO variations and multiple acyl-CoA dehydrogenation deficiency.
    Cornelius N; Frerman FE; Corydon TJ; Palmfeldt J; Bross P; Gregersen N; Olsen RK
    Hum Mol Genet; 2012 Aug; 21(15):3435-48. PubMed ID: 22611163
    [TBL] [Abstract][Full Text] [Related]  

  • 24. 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]  

  • 25. 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]  

  • 26. 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]  

  • 27. A novel mutation in ETFDH manifesting as severe neonatal-onset multiple acyl-CoA dehydrogenase deficiency.
    van der Westhuizen FH; Smuts I; Honey E; Louw R; Schoonen M; Jonck LM; Dercksen M
    J Neurol Sci; 2018 Jan; 384():121-125. PubMed ID: 29249369
    [TBL] [Abstract][Full Text] [Related]  

  • 28. 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]  

  • 29. Riboflavin-responsive multiple Acyl-CoA dehydrogenation deficiency in 13 cases, and a literature review in mainland Chinese patients.
    Zhu M; Zhu X; Qi X; Weijiang D; Yu Y; Wan H; Hong D
    J Hum Genet; 2014 May; 59(5):256-61. PubMed ID: 24522293
    [TBL] [Abstract][Full Text] [Related]  

  • 30. 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]  

  • 31. Novel ETFDH mutation and imaging findings in an adult with glutaric aciduria type II.
    Rosenbohm A; Süssmuth SD; Kassubek J; Müller HP; Pontes C; Abicht A; Bulst S; Ludolph AC; Pinkhardt E
    Muscle Nerve; 2014 Mar; 49(3):446-50. PubMed ID: 23893693
    [TBL] [Abstract][Full Text] [Related]  

  • 32. 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]  

  • 33. Incorporating second-tier genetic screening for multiple acyl-CoA dehydrogenase deficiency.
    Lin Y; Zheng W; Chen Y; Huang C; Fu Q; Chen D; Peng W
    Clin Chim Acta; 2022 Dec; 537():181-187. PubMed ID: 36334790
    [TBL] [Abstract][Full Text] [Related]  

  • 34. A case of late-onset riboflavin responsive multiple acyl-CoA dehydrogenase deficiency with novel mutations in ETFDH gene.
    Zhao ZN; Bao MX; Ma GT; Liu XM; Xu WJ; Sun ZW; Chen H; Zhu MJ
    CNS Neurosci Ther; 2012 Nov; 18(11):952-4. PubMed ID: 23106979
    [No Abstract]   [Full Text] [Related]  

  • 35. 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]  

  • 36. Computational analysis of a novel mutation in ETFDH gene highlights its long-range effects on the FAD-binding motif.
    Er TK; Chen CC; Liu YY; Chang HC; Chien YH; Chang JG; Hwang JK; Jong YJ
    BMC Struct Biol; 2011 Oct; 11():43. PubMed ID: 22013910
    [TBL] [Abstract][Full Text] [Related]  

  • 37. 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]  

  • 38. Clinical Features of Multiple Acyl-CoA Dehydrogenase Deficiency With ETFDH Variants in the First Korean Cases.
    Kim YJ; Ko JM; Song J; Lee KA
    Ann Lab Med; 2018 Nov; 38(6):616-618. PubMed ID: 30027710
    [No Abstract]   [Full Text] [Related]  

  • 39. Characterization of 31 Patients with Riboflavin-Responsive Multiple acyl-CoA Dehydrogenase Deficiency.
    Zhang J; Han J; Wang Y; Wu Y; Ma L; Song X; Ji G
    Balkan Med J; 2022 Jul; 39(4):290-296. PubMed ID: 35734957
    [TBL] [Abstract][Full Text] [Related]  

  • 40. 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]  

    [Previous]   [Next]    [New Search]
    of 18.