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Oncogene|April 21, 2015
Betulinic acid induces a novel cell death pathway that depends on cardiolipin modificationL Potze, S Di Franco, C Grandela, et al.
Orphanet Journal of Rare Diseases|June 18, 2015
Clinical and biochemical characterization of four patients with mutations in ECHS1Sacha Ferdinandusse, Marisa W Friederich, Alberto Burlina, et al.
Cellular and Molecular Life Sciences : CMLS|December 1, 2025
Local accumulation of very long-chain PUFA in plexiform layers associates with retinal dysfunction in a mouse model of peroxisomal ACBD5-deficiencyJulia Merz, Elisabeth Müller, Warda Darwisch, et al.
Human Mutation|June 29, 2010
LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhoodCaroline Michot, Laurence Hubert, Michèle Brivet, et al.
Molecular Genetics and Metabolism|July 27, 2025
Two new cases of KYNU deficiency: Further delineation of the phenotypic and biochemical spectrum and exploration of treatment optionsSusanna M I Goorden, Désirée Y van Haaften-Visser, Maria M Trętowicz, et al.
Genes|December 24, 2021
Biochemical Studies in Fibroblasts to Interpret Variants of Unknown Significance in the ABCD1 GeneStephanie I W van de Stadt, Petra A W Mooyer, Inge M E Dijkstra, et al.
Molecular Genetics and Metabolism Reports|May 17, 2021
Adult GAMT deficiency: A literature review and report of two siblingsBhavi P Modi, Haq Nawaz Khan, Robin van der Lee, et al.
Frontiers in Microbiology|November 21, 2022
Unraveling potential enzymes and their functional role in fine cocoa beans fermentation using temporal shotgun metagenomicsCarolina O de C Lima, Giovanni M De Castro, Ricardo Solar, et al.
Journal of Lipid Research|January 2, 2023
Sterol-regulated transmembrane protein TMEM86a couples LXR signaling to regulation of lysoplasmalogens in macrophagesSuzanne A E van Wouw, Marlene van den Berg, Maroua El Ouraoui, et al.
Communications Biology|November 27, 2020
Cerebellar and hepatic alterations in ACBD5-deficient mice are associated with unexpected, distinct alterations in cellular lipid homeostasisWarda Darwisch, Marino von Spangenberg, Jana Lehmann, et al.
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