186 related articles for article (PubMed ID: 22241096)
1. 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]
2. 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]
3. 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]
4. 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]
5. 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]
6. [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]
7. Screening and follow-up results of fatty acid oxidative metabolism disorders in 608 818 newborns in Jining, Shandong province.
Yang C; Shi C; Zhou C; Wan Q; Zhou Y; Chen X; Jin X; Huang C; Xu P
Zhejiang Da Xue Xue Bao Yi Xue Ban; 2021 Aug; 50(4):472-480. PubMed ID: 34704412
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. 221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative.
Bentler K; Zhai S; Elsbecker SA; Arnold GL; Burton BK; Vockley J; Cameron CA; Hiner SJ; Edick MJ; Berry SA;
Mol Genet Metab; 2016 Sep; 119(1-2):75-82. PubMed ID: 27477829
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Medium-chain acyl-coenzyme A dehydrogenase deficiency: Six cases in the Chinese population.
Li Y; Zhu R; Liu Y; Song J; Xu J; Yang Y
Pediatr Int; 2019 Jun; 61(6):551-557. PubMed ID: 31033143
[TBL] [Abstract][Full Text] [Related]
12. A comprehensive multiplex PCR based exome-sequencing assay for rapid bloodspot confirmation of inborn errors of metabolism.
Wang W; Yang J; Xue J; Mu W; Zhang X; Wu W; Xu M; Gong Y; Liu Y; Zhang Y; Xie X; Gu W; Bai J; Cram DS
BMC Med Genet; 2019 Jan; 20(1):3. PubMed ID: 30612563
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
Han LS; Ye J; Qiu WJ; Gao XL; Wang Y; Gu XF
J Inherit Metab Dis; 2007 Aug; 30(4):507-14. PubMed ID: 17347912
[TBL] [Abstract][Full Text] [Related]
15. Extended newborn screening: an update for the general paediatrician.
Coman D; Bhattacharya K
J Paediatr Child Health; 2012 Feb; 48(2):E68-72. PubMed ID: 22017206
[TBL] [Abstract][Full Text] [Related]
16. Quantitative acylcarnitine determination by UHPLC-MS/MS--Going beyond tandem MS acylcarnitine "profiles".
Minkler PE; Stoll MS; Ingalls ST; Kerner J; Hoppel CL
Mol Genet Metab; 2015 Dec; 116(4):231-41. PubMed ID: 26458767
[TBL] [Abstract][Full Text] [Related]
17. A neonatal death due to medium-chain acyl-CoA dehydrogenase deficiency: utilization of the neonatal metabolic screen in a functional approach to sudden unexplained infant death.
Manoukian AA; Ha CE; Seaver LH; Bhagavan NV
Am J Forensic Med Pathol; 2009 Sep; 30(3):284-6. PubMed ID: 19696588
[TBL] [Abstract][Full Text] [Related]
18. Impact of Newborn Screening and Early Dietary Management on Clinical Outcome of Patients with Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency and Medium Chain Acyl-CoA Dehydrogenase Deficiency-A Retrospective Nationwide Study.
Rücklová K; Hrubá E; Pavlíková M; Hanák P; Farolfi M; Chrastina P; Vlášková H; Kousal B; Smolka V; Foltenová H; Adam T; Friedecký D; Ješina P; Zeman J; Kožich V; Honzík T
Nutrients; 2021 Aug; 13(9):. PubMed ID: 34578803
[TBL] [Abstract][Full Text] [Related]
19. Novel and Recurrent ACADS Mutations and Clinical Manifestations Observed in Korean Patients with Short-chain Acyl-coenzyme a Dehydrogenase Deficiency.
Kim YM; Cheon CK; Park KH; Park S; Kim GH; Yoo HW; Lee KA; Ko JM
Ann Clin Lab Sci; 2016 Jul; 46(4):360-6. PubMed ID: 27466294
[TBL] [Abstract][Full Text] [Related]
20. Neonatal screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in The Netherlands: the importance of enzyme analysis to ascertain true MCAD deficiency.
Derks TG; Boer TS; van Assen A; Bos T; Ruiter J; Waterham HR; Niezen-Koning KE; Wanders RJ; Rondeel JM; Loeber JG; Ten Kate LP; Smit GP; Reijngoud DJ
J Inherit Metab Dis; 2008 Feb; 31(1):88-96. PubMed ID: 18188679
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
