Rare Disorders of Metabolism with Elevated Butyryl- and Isobutyryl-Carnitine Detected by Tandem Mass Spectrometry Newborn Screening-Reference-Cited by-同舟云学术

Rare Disorders of Metabolism with Elevated Butyryl- and Isobutyryl-Carnitine Detected by Tandem Mass Spectrometry Newborn Screening

Published:2003-08 Issue:2 Volume:54 Page:219-223
ISSN:0031-3998
Container-title:Pediatric Research
language:
Short-container-title:Pediatr Res

Author:

Koeberl Dwight D,Young Sarah P,Gregersen Niels,Vockley Jerry,Smith Wendy E,Benjamin Daniel Kelly,An Yan,Weavil Susan D,Chaing Shu H,Bali Deeksha,McDonald Marie T,Kishnani Priya S,Chen Y-T,Millington David S

Publisher

Springer Science and Business Media LLC

Subject

Pediatrics, Perinatology, and Child Health

Reference24 articles.

1. Disorders of mitochondrial fatty acyl-CoA β-oxidation

2. Role of Common Gene Variations in the Molecular Pathogenesis of Short-Chain Acyl-CoA Dehydrogenase Deficiency

3. Acute fatty liver of pregnancy associated with short-chain acyl-coenzyme A dehydrogenase deficiency

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

5. 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

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