257 related articles for article (PubMed ID: 33823107)
1. Newborn screening and molecular features of patients with multiple acyl-CoA dehydrogenase deficiency in Quanzhou, China.
Lin Y; Zhang W; Chen Z; Lin C; Lin W; Fu Q; Peng W; Chen D
J Pediatr Endocrinol Metab; 2021 May; 34(5):649-652. PubMed ID: 33823107
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
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. Prevalence and mutation analysis of short/branched chain acyl-CoA dehydrogenase deficiency (SBCADD) detected on newborn screening in Wisconsin.
Van Calcar SC; Baker MW; Williams P; Jones SA; Xiong B; Thao MC; Lee S; Yang MK; Rice GM; Rhead W; Vockley J; Hoffman G; Durkin MS
Mol Genet Metab; 2013; 110(1-2):111-5. PubMed ID: 23712021
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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]
8. 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]
9. Flavin adenine dinucleotide synthase deficiency due to FLAD1 mutation presenting as multiple acyl-CoA dehydrogenation deficiency-like disease: A case report.
Yamada K; Ito M; Kobayashi H; Hasegawa Y; Fukuda S; Yamaguchi S; Taketani T
Brain Dev; 2019 Aug; 41(7):638-642. PubMed ID: 30982706
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Screening of multiple acyl-CoA dehydrogenase deficiency in newborns and follow-up of patients.
Zhou D; Ye M; Hu Z; Zhang Y; Zhu L; Yang R; Huang X
Zhejiang Da Xue Xue Bao Yi Xue Ban; 2021 Aug; 50(4):454-462. PubMed ID: 34704421
[TBL] [Abstract][Full Text] [Related]
12. Newborn screening and genetic variation of medium chain acyl-CoA dehydrogenase deficiency in the Chinese population.
Li YY; Xu J; Sun XC; Li HY; Mu K
J Pediatr Endocrinol Metab; 2022 Oct; 35(10):1264-1271. PubMed ID: 36068006
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. FLAD1-associated multiple acyl-CoA dehydrogenase deficiency identified by newborn screening.
Muru K; Reinson K; Künnapas K; Lilleväli H; Nochi Z; Mosegaard S; Pajusalu S; Olsen RKJ; Õunap K
Mol Genet Genomic Med; 2019 Sep; 7(9):e915. PubMed ID: 31392824
[TBL] [Abstract][Full Text] [Related]
15. A case of late-onset riboflavin responsive multiple acyl-CoA dehydrogenase deficiency (MADD) with a novel mutation in ETFDH gene.
Zhuo Z; Jin P; Li F; Li H; Chen X; Wang H
J Neurol Sci; 2015; 353(1-2):84-6. PubMed ID: 25913573
[TBL] [Abstract][Full Text] [Related]
16. Biochemical and molecular features of Chinese patients with glutaric acidemia type 1 detected through newborn screening.
Lin Y; Wang W; Lin C; Zheng Z; Fu Q; Peng W; Chen D
Orphanet J Rare Dis; 2021 Aug; 16(1):339. PubMed ID: 34344405
[TBL] [Abstract][Full Text] [Related]
17. The male-to-female ratio in late-onset multiple acyl-CoA dehydrogenase deficiency: a systematic review and meta-analysis.
Ma J; Zhang H; Liang F; Li G; Pang X; Zhao R; Wang J; Chang X; Guo J; Zhang W
Orphanet J Rare Dis; 2024 Feb; 19(1):72. PubMed ID: 38365830
[TBL] [Abstract][Full Text] [Related]
18. Prediction of disease severity in multiple acyl-CoA dehydrogenase deficiency: A retrospective and laboratory cohort study.
van Rijt WJ; Ferdinandusse S; Giannopoulos P; Ruiter JPN; de Boer L; Bosch AM; Huidekoper HH; Rubio-Gozalbo ME; Visser G; Williams M; Wanders RJA; Derks TGJ
J Inherit Metab Dis; 2019 Sep; 42(5):878-889. PubMed ID: 31268564
[TBL] [Abstract][Full Text] [Related]
19. Diagnosis, genetic characterization and clinical follow up of mitochondrial fatty acid oxidation disorders in the new era of expanded newborn screening: A single centre experience.
Maguolo A; Rodella G; Dianin A; Nurti R; Monge I; Rigotti E; Cantalupo G; Salviati L; Tucci S; Pellegrini F; Molinaro G; Lupi F; Tonin P; Pasini A; Campostrini N; Ion Popa F; Teofoli F; Vincenzi M; Camilot M; Piacentini G; Bordugo A
Mol Genet Metab Rep; 2020 Sep; 24():100632. PubMed ID: 32793418
[TBL] [Abstract][Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]
