269 related articles for article (PubMed ID: 29988809)
1. Novel
Fan X; Xie B; Zou J; Luo J; Qin Z; D'Gama AM; Shi J; Yi S; Yang Q; Wang J; Luo S; Chen S; Agrawal PB; Li Q; Shen Y
Mol Genet Metab Rep; 2018 Sep; 16():15-19. PubMed ID: 29988809
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. 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]
5. 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]
6. 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]
7. 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]
8. Conformational analysis of the riboflavin-responsive ETF:QO-p.Pro456Leu variant associated with mild multiple acyl-CoA dehydrogenase deficiency.
Lucas TG; Henriques BJ; Gomes CM
Biochim Biophys Acta Proteins Proteom; 2020 Jun; 1868(6):140393. PubMed ID: 32087359
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. ETF-QO Mutants Uncoupled Fatty Acid β-Oxidation and Mitochondrial Bioenergetics Leading to Lipid Pathology.
Chokchaiwong S; Kuo YT; Hsu SP; Hsu YC; Lin SH; Zhong WB; Lin YF; Kao SH
Cells; 2019 Jan; 8(2):. PubMed ID: 30709034
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. 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]
13. Multiple Acyl-CoA Dehydrogenation Deficiency (Glutaric Aciduria Type II) with a Novel Mutation of Electron Transfer Flavoprotein-Dehydrogenase in a Cat.
Wakitani S; Torisu S; Yoshino T; Hattanda K; Yamato O; Tasaki R; Fujita H; Nishino K
JIMD Rep; 2014; 13():43-51. PubMed ID: 24142280
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Clinical and molecular investigation of 37 Japanese patients with multiple acyl-CoA dehydrogenase deficiency: p.Y507D in
Yamada K; Osawa Y; Kobayashi H; Bo R; Mushimoto Y; Hasegawa Y; Yamaguchi S; Taketani T
Mol Genet Metab Rep; 2022 Dec; 33():100940. PubMed ID: 36406819
[TBL] [Abstract][Full Text] [Related]
16. Case report: A novel c.1842_1845dup mutation of
Yuan G; Zhang X; Chen T; Lin J
Front Pediatr; 2022; 10():1038440. PubMed ID: 36683804
[TBL] [Abstract][Full Text] [Related]
17. A Novel Truncating FLAD1 Variant, Causing Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) in an 8-Year-Old Boy.
Ryder B; Tolomeo M; Nochi Z; Colella M; Barile M; Olsen RK; Inbar-Feigenberg M
JIMD Rep; 2019; 45():37-44. PubMed ID: 30311138
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Hyperhomocysteinemia in patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.
Zhang H; Zhao R; Ma J; Zhang J; Wang J; Chang X; Guo J; Zhang W
Muscle Nerve; 2023 Nov; 68(5):750-757. PubMed ID: 37606529
[TBL] [Abstract][Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]
