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Cell Reports|August 30, 2023
The malate-aspartate shuttle is important for de novo serine biosynthesisMelissa H Broeks, Nils W F Meijer, Denise Westland, et al.
Orphanet Journal of Rare Diseases|October 7, 2010
A novel mutation of the ACADM gene (c.145C>G) associated with the common c.985A>G mutation on the other ACADM allele causes mild MCAD deficiency: a case reportAnne-Frédérique Dessein, Monique Fontaine, Brage S Andresen, et al.
Journal of Inherited Metabolic Disease|June 26, 2015
Mitochondrial trifunctional protein deficiency in human cultured fibroblasts: effects of bezafibrateFatima Djouadi, Florence Habarou, Carole Le Bachelier, et al.
Human Molecular Genetics|August 30, 2014
A novel bile acid biosynthesis defect due to a deficiency of peroxisomal ABCD3Sacha Ferdinandusse, Gerardo Jimenez-Sanchez, Janet Koster, et al.
The Journal of Biological Chemistry|July 14, 2023
Maintenance of cellular vitamin B<sub>6</sub> levels and mitochondrial oxidative function depend on pyridoxal 5'-phosphate homeostasis proteinJolita Ciapaite, Carlo W T van Roermund, Marjolein Bosma, et al.
Molecular & Cellular Proteomics : MCP|August 31, 2015
Proteomic and Biochemical Studies of Lysine Malonylation Suggest Its Malonic Aciduria-associated Regulatory Role in Mitochondrial Function and Fatty Acid OxidationGozde Colak, Olga Pougovkina, Lunzhi Dai, et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease|June 18, 2019
Liver disease predominates in a mouse model for mild human Zellweger spectrum disorderKevin Berendse, Maxim Boek, Marion Gijbels, et al.
Journal of Inherited Metabolic Disease|April 11, 2015
Genetic basis of alpha-aminoadipic and alpha-ketoadipic aciduriaJacob Hagen, Heleen te Brinke, Ronald J A Wanders, et al.
Journal of Inherited Metabolic Disease|November 1, 2002
Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in five unrelated familiesW J Kleijer, V H Garritsen, M Linnebank, et al.
Clinical Nutrition (Edinburgh, Scotland)|September 19, 2020
Exploring the metabolic fate of medium-chain triglycerides in healthy individuals using a stable isotope tracerSuzan J G Knottnerus, Dewi van Harskamp, Henk Schierbeek, et al.
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