Biochemical, molecular, and clinical characteristics of children with short chain acyl-CoA dehydrogenase deficiency detected by newborn screening in California-Reference-Cited by-同舟云学术

Biochemical, molecular, and clinical characteristics of children with short chain acyl-CoA dehydrogenase deficiency detected by newborn screening in California

Published:2012-05 Issue:1 Volume:106 Page:55-61
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Gallant Natalie M.,Leydiker Karen,Tang Hao,Feuchtbaum Lisa,Lorey Fred,Puckett Rebecca,Deignan Joshua L.,Neidich Julie,Dorrani Naghmeh,Chang Erica,Barshop Bruce A.,Cederbaum Stephen D.,Abdenur Jose E.,Wang Raymond Y.

Publisher

Elsevier BV

Subject

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

Reference31 articles.

1. Clinical, biochemical, and genetic heterogeneity in short-chain acyl-coenzyme A dehydrogenase deficiency;van Maldegem;JAMA,2006

2. Short-chain acyl-coenzyme A dehydrogenase deficiency;Jethva;Mol. Genet. Metab.,2008

3. Ethylmalonic aciduria is associated with an amino acid variant of short chain acyl-coenzyme A dehydrogenase;Corydon;Pediatr. Res.,1996

4. Identification of four new mutations in the short-chain acyl-CoA dehydrogenase (SCAD) gene in two patients: one of the variant alleles, 511C-->T, is present at an unexpectedly high frequency in the general population, as was the case for 625G-->A, together conferring susceptibility to ethylmalonic aciduria

5. Rare disorders of metabolism with elevated butyryl- and isobutyryl-carnitine detected by tandem mass spectrometry newborn screening;Koeberl;Pediatr. Res.,2003

Cited by 61 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. Diagnostic and Prognostic Performance of Metabolic Signatures in Pancreatic Ductal Adenocarcinoma: The Clinical Application of Quantitative NextGen Mass Spectrometry;Metabolites;2024-02-29

2. Comprehensive Metabolomic/Lipidomic Characterization of Patients with Mitochondrial Atp Synthase, Short-Chain Acyl-Coa Dehydrogenase and Combined Variant Deficiencies;2024

3. Inborn Errors of Carbohydrate, Ammonia, Amino Acid, and Organic Acid Metabolism;Avery's Diseases of the Newborn;2024

4. Primary carnitine deficiency: Estimation of prevalence in Chinese population and insights into newborn screening;Frontiers in Genetics;2023-12-06

5. The Physiological and Pathological Role of Acyl-CoA Oxidation;International Journal of Molecular Sciences;2023-10-03