368 related articles for article (PubMed ID: 31813752)
1. Increased parental anxiety and a benign clinical course: Infants identified with short-chain acyl-CoA dehydrogenase deficiency and isobutyryl-CoA dehydrogenase deficiency through newborn screening in Georgia.
Sadat R; Hall PL; Wittenauer AL; Vengoechea ED; Park K; Hagar AF; Singh R; Moore RH; Gambello MJ
Mol Genet Metab; 2020 Jan; 129(1):20-25. PubMed ID: 31813752
[TBL] [Abstract][Full Text] [Related]
2. Follow-up of patients with short-chain acyl-CoA dehydrogenase and isobutyryl-CoA dehydrogenase deficiencies identified through newborn screening: one center's experience.
Pena L; Angle B; Burton B; Charrow J
Genet Med; 2012 Mar; 14(3):342-7. PubMed ID: 22241096
[TBL] [Abstract][Full Text] [Related]
3. Biochemical, molecular, and clinical characteristics of children with short chain acyl-CoA dehydrogenase deficiency detected by newborn screening in California.
Gallant NM; Leydiker K; Tang H; Feuchtbaum L; Lorey F; Puckett R; Deignan JL; Neidich J; Dorrani N; Chang E; Barshop BA; Cederbaum SD; Abdenur JE; Wang RY
Mol Genet Metab; 2012 May; 106(1):55-61. PubMed ID: 22424739
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. Short-chain acyl-CoA dehydrogenase (SCAD) deficiency: an examination of the medical and neurodevelopmental characteristics of 14 cases identified through newborn screening or clinical symptoms.
Waisbren SE; Levy HL; Noble M; Matern D; Gregersen N; Pasley K; Marsden D
Mol Genet Metab; 2008; 95(1-2):39-45. PubMed ID: 18676165
[TBL] [Abstract][Full Text] [Related]
6. Clinical aspects of short-chain acyl-CoA dehydrogenase deficiency.
van Maldegem BT; Wanders RJ; Wijburg FA
J Inherit Metab Dis; 2010 Oct; 33(5):507-11. PubMed ID: 20429031
[TBL] [Abstract][Full Text] [Related]
7. [Clinical, biochemical and gene mutation characteristics of short chain acyl-coenzyme A dehydrogenase deficiency by neonatal screening].
Huang XW; Zhang Y; Yang JB; Hong F; Qian GL; Tong F; Mao HQ; Huang XL; Zhou XL; Yang RL; Zhao ZY
Zhonghua Er Ke Za Zhi; 2016 Dec; 54(12):927-930. PubMed ID: 27938594
[No Abstract] [Full Text] [Related]
8. Follow-up of fatty acid β-oxidation disorders in expanded newborn screening era.
Janeiro P; Jotta R; Ramos R; Florindo C; Ventura FV; Vilarinho L; Tavares de Almeida I; Gaspar A
Eur J Pediatr; 2019 Mar; 178(3):387-394. PubMed ID: 30617651
[TBL] [Abstract][Full Text] [Related]
9. Phenotype, genotype and long-term prognosis of 40 Chinese patients with isobutyryl-CoA dehydrogenase deficiency and a review of variant spectra in ACAD8.
Feng J; Yang C; Zhu L; Zhang Y; Zhao X; Chen C; Chen QX; Shu Q; Jiang P; Tong F
Orphanet J Rare Dis; 2021 Sep; 16(1):392. PubMed ID: 34544473
[TBL] [Abstract][Full Text] [Related]
10. An unusually high frequency of SCAD deficiency caused by two pathogenic variants in the ACADS gene and its relationship to the ethnic structure in Slovakia.
Lisyová J; Chandoga J; Jungová P; Repiský M; Knapková M; Machková M; Dluholucký S; Behúlová D; Šaligová J; Potočňáková Ľ; Lysinová M; Böhmer D
BMC Med Genet; 2018 Apr; 19(1):64. PubMed ID: 29678161
[TBL] [Abstract][Full Text] [Related]
11. Clinical and biochemical outcomes of patients with medium-chain acyl-CoA dehydrogenase deficiency.
Anderson DR; Viau K; Botto LD; Pasquali M; Longo N
Mol Genet Metab; 2020 Jan; 129(1):13-19. PubMed ID: 31836396
[TBL] [Abstract][Full Text] [Related]
12. Short-chain acyl-CoA dehydrogenase deficiency: from gene to cell pathology and possible disease mechanisms.
Nochi Z; Olsen RKJ; Gregersen N
J Inherit Metab Dis; 2017 Sep; 40(5):641-655. PubMed ID: 28516284
[TBL] [Abstract][Full Text] [Related]
13. Isobutyryl-CoA dehydrogenase deficiency associated with autism in a girl without an alternative genetic diagnosis by trio whole exome sequencing: A case report.
Eleftheriadou M; Medici-van den Herik E; Stuurman K; van Bever Y; Hellebrekers DMEI; van Slegtenhorst M; Ruijter G; Barakat TS
Mol Genet Genomic Med; 2021 Feb; 9(2):e1595. PubMed ID: 33432785
[TBL] [Abstract][Full Text] [Related]
14. Clinical, biochemical, and genetic heterogeneity in short-chain acyl-coenzyme A dehydrogenase deficiency.
van Maldegem BT; Duran M; Wanders RJ; Niezen-Koning KE; Hogeveen M; Ijlst L; Waterham HR; Wijburg FA
JAMA; 2006 Aug; 296(8):943-52. PubMed ID: 16926354
[TBL] [Abstract][Full Text] [Related]
15. Impact of newborn screening for very-long-chain acyl-CoA dehydrogenase deficiency on genetic, enzymatic, and clinical outcomes.
Bleeker JC; Kok IL; Ferdinandusse S; van der Pol WL; Cuppen I; Bosch AM; Langeveld M; Derks TGJ; Williams M; de Vries M; Mulder MF; Gozalbo ER; de Sain-van der Velden MGM; Rennings AJ; Schielen PJCI; Dekkers E; Houtkooper RH; Waterham HR; Pras-Raves ML; Wanders RJA; van Hasselt PM; Schoenmakers M; Wijburg FA; Visser G
J Inherit Metab Dis; 2019 May; 42(3):414-423. PubMed ID: 30761551
[TBL] [Abstract][Full Text] [Related]
16. High prevalence of short-chain acyl-CoA dehydrogenase deficiency in the Netherlands, but no association with epilepsy of unknown origin in childhood.
van Maldegem BT; Kloosterman SF; Janssen WJ; Augustijn PB; van der Lee JH; Ijlst L; Waterham HR; Duran R; Wanders RJ; Wijburg FA
Neuropediatrics; 2011 Feb; 42(1):13-7. PubMed ID: 21500142
[TBL] [Abstract][Full Text] [Related]
17. Clinical characteristics and related gene mutations of infants with short-chain acyl-CoA dehydrogenase deficiency by neonatal screening in Beijing.
Gong L; Yang N; Zhao J; Yang H; Tang Y; Li L; Kong Y
Zhejiang Da Xue Xue Bao Yi Xue Ban; 2022 Jun; 51(3):278-283. PubMed ID: 36207829
[TBL] [Abstract][Full Text] [Related]
18. A nationwide retrospective observational study of population newborn screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in the Netherlands.
Jager EA; Kuijpers MM; Bosch AM; Mulder MF; Gozalbo ER; Visser G; de Vries M; Williams M; Waterham HR; van Spronsen FJ; Schielen PCJI; Derks TGJ
J Inherit Metab Dis; 2019 Sep; 42(5):890-897. PubMed ID: 31012112
[TBL] [Abstract][Full Text] [Related]
19. The health system impact of false positive newborn screening results for medium-chain acyl-CoA dehydrogenase deficiency: a cohort study.
Karaceper MD; Chakraborty P; Coyle D; Wilson K; Kronick JB; Hawken S; Davies C; Brownell M; Dodds L; Feigenbaum A; Fell DB; Grosse SD; Guttmann A; Laberge AM; Mhanni A; Miller FA; Mitchell JJ; Nakhla M; Prasad C; Rockman-Greenberg C; Sparkes R; Wilson BJ; Potter BK;
Orphanet J Rare Dis; 2016 Feb; 11():12. PubMed ID: 26841949
[TBL] [Abstract][Full Text] [Related]
20. Newborn screening for medium chain acyl-CoA dehydrogenase deficiency: performance improvement by monitoring a new ratio.
Hall PL; Wittenauer A; Hagar A
Mol Genet Metab; 2014 Dec; 113(4):274-7. PubMed ID: 25454677
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]