296 related articles for article (PubMed ID: 32393189)
1. 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]
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. 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]
4. 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]
5. 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]
6. 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]
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. 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]
9. 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]
10. 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]
11. A fatal case of neonatal onset multiple acyl-CoA dehydrogenase deficiency caused by novel mutation of ETFDH gene: case report.
De Pasquale L; Meo P; Fulia F; Anania A; Meli V; Mondello A; Raimondo MT; Tulino V; Coletta MS; Cacace C
Ital J Pediatr; 2022 Sep; 48(1):164. PubMed ID: 36064718
[TBL] [Abstract][Full Text] [Related]
12. Amelioration of acylcarnitine profile using bezafibrate and riboflavin in a case of adult-onset glutaric acidemia type 2 with novel mutations of the electron transfer flavoprotein dehydrogenase (ETFDH) gene.
Shioya A; Takuma H; Yamaguchi S; Ishii A; Hiroki M; Fukuda T; Sugie H; Shigematsu Y; Tamaoka A
J Neurol Sci; 2014 Nov; 346(1-2):350-2. PubMed ID: 25216552
[No Abstract] [Full Text] [Related]
13. Mitochondrial energetic impairment in a patient with late-onset glutaric acidemia Type 2.
Xiao C; Astiazaran-Symonds E; Basu S; Kisling M; Scaglia F; Chapman KA; Wang Y; Vockley J; Ferreira CR
Am J Med Genet A; 2020 Oct; 182(10):2426-2431. PubMed ID: 32804429
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. [Clinical features and ETFDH mutations of children with late-onset glutaric aciduria type II: a report of two cases].
Cheng YY; Tang Y; Liu AJ; Wei L; Lin L; Zhang J; Zhi L
Zhongguo Dang Dai Er Ke Za Zhi; 2017 Sep; 19(9):975-978. PubMed ID: 28899466
[TBL] [Abstract][Full Text] [Related]
16. A novel deleterious ETFA promoter variant causative of multiple acyl-CoA dehydrogenase deficiency.
Prasun P; Evans A; Cork E; Houten SM; Webb BD
Am J Med Genet A; 2023 Apr; 191(4):1089-1093. PubMed ID: 36579410
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. 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]
19. 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]
20. 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]
[Next] [New Search]
