Flavin Adenine Dinucleotide Status and the Effects of High-Dose Riboflavin Treatment in Short-Chain Acyl-CoA Dehydrogenase Deficiency-Reference-Cited by-同舟云学术

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Flavin Adenine Dinucleotide Status and the Effects of High-Dose Riboflavin Treatment in Short-Chain Acyl-CoA Dehydrogenase Deficiency

Published:2010-03 Issue:3 Volume:67 Page:304-308
ISSN:0031-3998
Container-title:Pediatric Research
language:
Short-container-title:Pediatr Res

Author:

van Maldegem Bianca T,Duran Marinus,Wanders Ronald J A,Waterham Hans R,Wijburg Frits A

Publisher

Springer Science and Business Media LLC

Subject

Pediatrics, Perinatology, and Child Health

Reference34 articles.

1. Short-chain acyl-coenzyme A dehydrogenase deficiency. Clinical and biochemical studies in two patients.

2. 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

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

4. Short-chain acyl-CoA dehydrogenase deficiency in a 16-year-old girl with severe muscle wasting and scoliosis

5. Clinical, Biochemical, and Genetic Heterogeneity in Short-Chain Acyl-Coenzyme A Dehydrogenase Deficiency

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