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Journal of Inherited Metabolic Disease|July 30, 2016
Cholic acid therapy in Zellweger spectrum disordersKevin Berendse, Femke C C Klouwer, Bart G P Koot, et al.
American Journal of Human Genetics|December 9, 2017
Allelic Expression Imbalance Promoting a Mutant PEX6 Allele Causes Zellweger Spectrum DisorderKim D Falkenberg, Nancy E Braverman, Ann B Moser, et al.
Pediatric Research|July 22, 2006
Variations in IBD (ACAD8) in children with elevated C4-carnitine detected by tandem mass spectrometry newborn screeningChristina B Pedersen, Claus Bischoff, Ernst Christensen, et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease|April 30, 2025
Docosahexaenoic acid prevents peroxisomal and mitochondrial protein loss in a murine hepatic organoid model of severe malnutritionJosé M Horcas-Nieto, W Alfredo Rios-Ocampo, Miriam Langelaar-Makkinje, et al.
Molecular Genetics and Metabolism|February 17, 2010
A common mutation, R208X, identified in Vietnamese patients with mitochondrial acetoacetyl-CoA thiolase (T2) deficiencyToshiyuki Fukao, Hoan Thi Nguyen, Nhan Thu Nguyen, et al.
Molecular & Cellular Proteomics : MCP|September 5, 2007
Proteomics characterization of mouse kidney peroxisomes by tandem mass spectrometry and protein correlation profilingSebastian Wiese, Thomas Gronemeyer, Rob Ofman, et al.
Journal of Inherited Metabolic Disease|September 2, 2022
Multi-omics in classical galactosemia: Evidence for the involvement of multiple metabolic pathwaysMerel E Hermans, Michel van Weeghel, Frédéric M Vaz, et al.
Molecular Genetics and Metabolism|August 3, 2021
A review of treatment modalities in gyrate atrophy of the choroid and retina (GACR)Berith M Balfoort, Mark J N Buijs, Anneloor L M A Ten Asbroek, 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.
Progress in Retinal and Eye Research|December 29, 2024
Syndromic retinitis pigmentosaJessica S Karuntu, Hind Almushattat, Xuan-Thanh-An Nguyen, et al.
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