VLCAD deficiency: Pitfalls in newborn screening and confirmation of diagnosis by mutation analysis-Reference-Cited by-同舟云学术

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VLCAD deficiency: Pitfalls in newborn screening and confirmation of diagnosis by mutation analysis

Published:2006-06 Issue:2 Volume:88 Page:166-170
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Boneh A.,Andresen B.S.,Gregersen N.,Ibrahim M.,Tzanakos N.,Peters H.,Yaplito-Lee J.,Pitt J.J.

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference15 articles.

1. Novel fatty acid beta-oxidation enzymes in rat liver mitochondria. I. Purification and properties of very-long-chain acyl-coenzyme A dehydrogenase;Izai;J. Biol. Chem.,1992

2. Mitochondrial very-long-chain acyl-coenzyme A dehydrogenase deficiency: clinical characteristics and diagnostic considerations in 30 patients;Vianey-Saban;Clin. Chim. Acta,1998

3. Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency;Andresen;Am. J. Hum. Genet.,1999

4. Molecular heterogeneity in very-long-chain acyl-CoA dehydrogenase deficiency causing pediatric cardiomyopathy and sudden death;Mathur;Circulation,1999

5. MS/MS-based newborn and family screening detects asymptomatic patients with very-long-chain acyl-CoA dehydrogenase deficiency;Spiekerkoetter;J. Pediatr.,2003

Cited by 91 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Four novel variants identified in the ACADVL gene causing very-long-chain acyl-coenzyme A dehydrogenase deficiency in four unrelated Chinese families;Frontiers in Genetics;2024-08-12

2. Using the C14:1/Medium-Chain Acylcarnitine Ratio Instead of C14:1 to Reduce False-Positive Results for Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency in Newborn Screening in Japan;International Journal of Neonatal Screening;2024-02-20

3. Newborn Genetic Screening—Still a Role for Sanger Sequencing in the Era of NGS;International Journal of Neonatal Screening;2023-12-07

4. Biochemical and molecular characteristics among infants with abnormal newborn screen for very-long-chain acyl-CoA dehydrogenase deficiency: A single center experience;Molecular Genetics and Metabolism Reports;2023-12

5. Remodeling of lipid landscape in high fat fed very-long chain acyl-CoA dehydrogenase null mice favors pro-arrhythmic polyunsaturated fatty acids and their downstream metabolites;Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease;2023-12

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