Deuterated palmitate-driven acylcarnitine formation by whole-blood samples for a rapid diagnostic exploration of mitochondrial fatty acid oxidation disorders

Diagnosis of Inborn Errors of Metabolism from Blood Spots by Acylcarnitines and Amino Acids Profiling Using Automated Electrospray Tandem Mass Spectrometry

Mohamed S. Rashed, Pinar T. Ozand, Martin P. Bucknall et al. · Pediatric Research · 1995 · 343 citations

Life Sciences, Biochemistry, Molecular Medicine +16

Rapid diagnosis of MCAD deficiency: quantitative analysis of octanoylcarnitine and other acylcarnitines in newborn blood spots by tandem mass spectrometry

Donald H. Chace, Steven L Hillman, Johan L.K. Van Hove et al. · Clinical Chemistry · 1997 · 284 citations · Full text

Life Sciences, Biochemistry, Clinical Biochemistry +14

A comparison of [9,10‐³H]palmitic and [9,10‐³H]myristic acids for the detection of defects of fatty acid oxidation in intact cultured fibroblasts

N. J. Manning, S. E. Olpin, R. J. Pollitt et al. · Journal of Inherited Metabolic Disease · 1989 · 153 citations

Life Sciences, Biochemistry, Molecular Biology +12

Very long chain acyl-CoA dehydrogenase deficiency: identification of a new inborn error of mitochondrial fatty acid oxidation in fibroblasts

C. Bertrand, C Largillière, Marie Theresa Zabot et al. · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · 1993 · 121 citations

Life Sciences, Biochemistry, Genetics +16

The natural history of medium-chain acyl CoA dehydrogenase deficiency in the Netherlands: Clinical presentation and outcome

Terry G. J. Derks, Dirk‐Jan Reijngoud, Hans R. Waterham et al. · The Journal of Pediatrics · 2006 · 114 citations

Life Sciences, Biochemistry, Molecular Biology +13