Fasting and Fat-Loading Tests Provide Pathophysiological Insight into Short-Chain Acyl-Coenzyme A Dehydrogenase Deficiency-Reference-Cited by-同舟云学术

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Fasting and Fat-Loading Tests Provide Pathophysiological Insight into Short-Chain Acyl-Coenzyme A Dehydrogenase Deficiency

Published:2010-01 Issue:1 Volume:156 Page:121-127
ISSN:0022-3476
Container-title:The Journal of Pediatrics
language:en
Short-container-title:The Journal of Pediatrics

Author:

van Maldegem Bianca T.,Duran Marinus,Wanders Ronald J.A.,Waterham Hans R.,de Koning Tom J.,Rubio Estela,Wijburg Frits A.

Publisher

Elsevier BV

Subject

Pediatrics, Perinatology, and Child Health

Reference28 articles.

1. 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;Mol Genet Metab,2008

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

3. The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level;Pedersen;Hum Genet,2008

4. Short-chain acyl-CoA dehydrogenase gene mutation (c.319C > T) presents with clinical heterogeneity and is candidate founder mutation in individuals of Ashkenazi Jewish origin;Tein;Mol Genet Metab,2008

5. Screening newborns for inborn errors of metabolism by tandem mass spectrometry;Wilcken;N Engl J Med,2003

Cited by 7 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. Newborn screening and genetic characteristics of patients with short- and very long-chain acyl-CoA dehydrogenase deficiencies;Clinica Chimica Acta;2020-11

2. Short-chain acyl-CoA dehydrogenase deficiency: from gene to cell pathology and possible disease mechanisms;Journal of Inherited Metabolic Disease;2017-05-17

3. Short chain acyl-CoA dehydrogenase deficiency and short-term high-fat diet perturb mitochondrial energy metabolism and transcriptional control of lipid-handling in liver;Nutrition & Metabolism;2016-03-01

4. Inborn Errors of Metabolism;Advances in Clinical Chemistry;2016

5. Impaired fasting tolerance among Alaska native children with a common carnitine palmitoyltransferase 1A sequence variant;Molecular Genetics and Metabolism;2011-11

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