Associated Papers
Refinements and considerations for trio whole-genome sequence analysis when investigating Mendelian diseases presenting in early childhood.
French CE et al.
Hgg Advances, 2022
35586607 (PubMed )
Supplement: mmc2.xlsx › Sheet1
Impact of newborn screening on the reported incidence and clinical outcomes associated with medium- and long-chain fatty acid oxidation disorders.
Marsden D et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Management and diagnosis of mitochondrial fatty acid oxidation disorders: focus on very-long-chain acyl-CoA dehydrogenase deficiency.
Yamada K et al.
Journal of Human Genetics, 2019
Mitochondrial fatty acid oxidation disorders: clinical presentation of long-chain fatty acid oxidation defects before and after newborn screening.
Spiekerkoetter U
Journal of Inherited Metabolic Disease, 2010
Treatment recommendations in long-chain fatty acid oxidation defects: consensus from a workshop.
Spiekerkoetter U et al.
Journal of Inherited Metabolic Disease, 2009
MS/MS-based newborn and family screening detects asymptomatic patients with very-long-chain acyl-CoA dehydrogenase deficiency.
Spiekerkoetter U et al.
The Journal of Pediatrics, 2003
Molecular heterogeneity in very-long-chain acyl-CoA dehydrogenase deficiency causing pediatric cardiomyopathy and sudden death.
Mathur A et al.
Circulation, 1999
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