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Review 1. The clinical manifestation of MCAD deficiency: challenges towards adulthood in the screened population.

Authors: Ulrich A Schatz; Regina Ensenauer
Journal: J Inherit Metab Dis Date: 2010-06-08 Impact factor: 4.982

2. In situ assay of fatty acid β-oxidation by metabolite profiling following permeabilization of cell membranes.

Authors: Regina Ensenauer; Ralph Fingerhut; Sonja C Schriever; Barbara Fink; Marc Becker; Nina C Sellerer; Philipp Pagel; Andreas Kirschner; Torsten Dame; Bernhard Olgemöller; Wulf Röschinger; Adelbert A Roscher
Journal: J Lipid Res Date: 2012-02-16 Impact factor: 5.922

3. Rhabdomyolysis and acute encephalopathy in late onset medium chain acyl-CoA dehydrogenase deficiency.

Authors: W Ruitenbeek; P J Poels; D M Turnbull; B Garavaglia; R A Chalmers; R W Taylor; F J Gabreëls
Journal: J Neurol Neurosurg Psychiatry Date: 1995-02 Impact factor: 10.154

4. Molecular genetic characterization and urinary excretion pattern of metabolites in two families with MCAD deficiency due to compound heterozygosity with a 13 base pair insertion in one allele.

Authors: N Gregersen; V Winter; S Lyonnet; J M Saudubray; U Wendel; T G Jensen; B S Andresen; S Kølvraa; W Lehnert; L Bolund
Journal: J Inherit Metab Dis Date: 1994 Impact factor: 4.982

5. A new patient with dicarboxylic aciduria suggestive of medium-chain Acyl-CoA dehydrogenase deficiency presenting as Reye's syndrome.

Authors: J A Del Valle; M J Garcia; B Merinero; C Pérez-Cerdá; F Roman; A Jimenez; M Ugarte; M Martínez-Pardo; C Ludeña; C Camarero
Journal: J Inherit Metab Dis Date: 1984 Impact factor: 4.982

6. Symptoms and signs in organic acidurias.

Authors: N J Brandt
Journal: J Inherit Metab Dis Date: 1984 Impact factor: 4.982

7. The microsomal dicarboxylyl-CoA synthetase.

Authors: J Vamecq; E de Hoffmann; F Van Hoof
Journal: Biochem J Date: 1985-09-15 Impact factor: 3.857

8. A rare disease-associated mutation in the medium-chain acyl-CoA dehydrogenase (MCAD) gene changes a conserved arginine, previously shown to be functionally essential in short-chain acyl-CoA dehydrogenase (SCAD).

Authors: B S Andresen; P Bross; T G Jensen; V Winter; I Knudsen; S Kølvraa; U B Jensen; L Bolund; M Duran; J J Kim
Journal: Am J Hum Genet Date: 1993-09 Impact factor: 11.025

9. In vivo studies on the metabolic derangement in a patient with D-glyceric acidaemia and hyperglycinaemia.

Authors: S Kølvraa; N Gregersen; E Christensen
Journal: J Inherit Metab Dis Date: 1984 Impact factor: 4.982

10. Fatty acyl-CoA dehydrogenase deficiency: enzyme measurement and studies on alternative metabolism.

Authors: N Gregersen
Journal: J Inherit Metab Dis Date: 1984 Impact factor: 4.982