242 related articles for article (PubMed ID: 25456746)
1. Neurodevelopmental profiles of children with very long chain acyl-CoA dehydrogenase deficiency diagnosed by newborn screening.
Brown A; Crowe L; Andresen BS; Anderson V; Boneh A
Mol Genet Metab; 2014 Dec; 113(4):278-82. PubMed ID: 25456746
[TBL] [Abstract][Full Text] [Related]
2. Clinical and biochemical outcome of patients with very long-chain acyl-CoA dehydrogenase deficiency.
Rovelli V; Manzoni F; Viau K; Pasquali M; Longo N
Mol Genet Metab; 2019 May; 127(1):64-73. PubMed ID: 31031081
[TBL] [Abstract][Full Text] [Related]
3. Neuropsychological functioning in children with medium chain acyl coenzyme a dehydrogenase deficiency (MCADD): the impact of early diagnosis and screening on outcome.
Joy P; Black C; Rocca A; Haas M; Wilcken B
Child Neuropsychol; 2009 Jan; 15(1):8-20. PubMed ID: 18608229
[TBL] [Abstract][Full Text] [Related]
4. Neonatal screening for very long-chain acyl-coA dehydrogenase deficiency: enzymatic and molecular evaluation of neonates with elevated C14:1-carnitine levels.
Liebig M; Schymik I; Mueller M; Wendel U; Mayatepek E; Ruiter J; Strauss AW; Wanders RJ; Spiekerkoetter U
Pediatrics; 2006 Sep; 118(3):1065-9. PubMed ID: 16950999
[TBL] [Abstract][Full Text] [Related]
5. Diagnosis of very long chain acyl-dehydrogenase deficiency from an infant's newborn screening card.
Wood JC; Magera MJ; Rinaldo P; Seashore MR; Strauss AW; Friedman A
Pediatrics; 2001 Jul; 108(1):E19. PubMed ID: 11433098
[TBL] [Abstract][Full Text] [Related]
6. Molecular diagnosis for a fatal case of very long-chain acyl-CoA dehydrogenase deficiency in Hong Kong Chinese with a novel mutation: a preventable death by newborn screening.
Siu WK; Mak CM; Siu SL; Siu TS; Pang CY; Lam CW; Kwong NS; Chan AY
Diagn Mol Pathol; 2012 Sep; 21(3):184-7. PubMed ID: 22847164
[TBL] [Abstract][Full Text] [Related]
7. Infants suspected to have very-long chain acyl-CoA dehydrogenase deficiency from newborn screening.
Merritt JL; Vedal S; Abdenur JE; Au SM; Barshop BA; Feuchtbaum L; Harding CO; Hermerath C; Lorey F; Sesser DE; Thompson JD; Yu A
Mol Genet Metab; 2014 Apr; 111(4):484-92. PubMed ID: 24503138
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS database.
Pena LD; van Calcar SC; Hansen J; Edick MJ; Walsh Vockley C; Leslie N; Cameron C; Mohsen AW; Berry SA; Arnold GL; Vockley J;
Mol Genet Metab; 2016 Aug; 118(4):272-81. PubMed ID: 27209629
[TBL] [Abstract][Full Text] [Related]
10. Neuropsychological outcomes in fatty acid oxidation disorders: 85 cases detected by newborn screening.
Waisbren SE; Landau Y; Wilson J; Vockley J
Dev Disabil Res Rev; 2013; 17(3):260-8. PubMed ID: 23798014
[TBL] [Abstract][Full Text] [Related]
11. MS/MS-based newborn and family screening detects asymptomatic patients with very-long-chain acyl-CoA dehydrogenase deficiency.
Spiekerkoetter U; Sun B; Zytkovicz T; Wanders R; Strauss AW; Wendel U
J Pediatr; 2003 Sep; 143(3):335-42. PubMed ID: 14517516
[TBL] [Abstract][Full Text] [Related]
12. Cognitive, behavioural and adaptive profiles of children with glutaric aciduria type I detected through newborn screening.
Beauchamp MH; Boneh A; Anderson V
J Inherit Metab Dis; 2009 Dec; 32 Suppl 1():S207-13. PubMed ID: 19466578
[TBL] [Abstract][Full Text] [Related]
13. Familial very long chain acyl-CoA dehydrogenase deficiency as a cause of neonatal sudden infant death: improved survival by prompt diagnosis.
Scalais E; Bottu J; Wanders RJ; Ferdinandusse S; Waterham HR; De Meirleir L
Am J Med Genet A; 2015 Jan; 167A(1):211-4. PubMed ID: 25338548
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States.
Miller MJ; Burrage LC; Gibson JB; Strenk ME; Lose EJ; Bick DP; Elsea SH; Sutton VR; Sun Q; Graham BH; Craigen WJ; Zhang VW; Wong LJ
Mol Genet Metab; 2015 Nov; 116(3):139-45. PubMed ID: 26385305
[TBL] [Abstract][Full Text] [Related]
16. Early presentation of very long chain acyl-CoA dehydrogenase deficiency: nursing action resulting in a positive outcome.
Sedgwick ER
J Pediatr Nurs; 2013; 28(4):379-82. PubMed ID: 23238219
[TBL] [Abstract][Full Text] [Related]
17. VLCAD deficiency: Follow-up and outcome of patients diagnosed through newborn screening in Victoria.
Evans M; Andresen BS; Nation J; Boneh A
Mol Genet Metab; 2016 Aug; 118(4):282-7. PubMed ID: 27246109
[TBL] [Abstract][Full Text] [Related]
18. Long-term outcome of expanded newborn screening at Boston children's hospital: benefits and challenges in defining true disease.
Landau YE; Waisbren SE; Chan LM; Levy HL
J Inherit Metab Dis; 2017 Mar; 40(2):209-218. PubMed ID: 28054209
[TBL] [Abstract][Full Text] [Related]
19. Clinical and genetic characteristics of patients with fatty acid oxidation disorders identified by newborn screening.
Kang E; Kim YM; Kang M; Heo SH; Kim GH; Choi IH; Choi JH; Yoo HW; Lee BH
BMC Pediatr; 2018 Mar; 18(1):103. PubMed ID: 29519241
[TBL] [Abstract][Full Text] [Related]
20. Development of a new enzymatic diagnosis method for very-long-chain Acyl-CoA dehydrogenase deficiency by detecting 2-hexadecenoyl-CoA production and its application in tandem mass spectrometry-based selective screening and newborn screening in Japan.
Tajima G; Sakura N; Shirao K; Okada S; Tsumura M; Nishimura Y; Ono H; Hasegawa Y; Hata I; Naito E; Yamaguchi S; Shigematsu Y; Kobayashi M
Pediatr Res; 2008 Dec; 64(6):667-72. PubMed ID: 18670371
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]