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Molecular Genetics and Metabolism|November 2, 2017
Comparison of C26:0-carnitine and C26:0-lysophosphatidylcholine as diagnostic markers in dried blood spots from newborns and patients with adrenoleukodystrophyIrene C Huffnagel, Malu-Clair van de Beek, Amanda L Showers, et al.Journal of Inherited Metabolic Disease|February 17, 2022
3-Hydroxyisobutyric acid dehydrogenase deficiency: Expanding the clinical spectrum and quantitation of D- and L-3-Hydroxyisobutyric acid by an LC-MS/MS methodFlorin Sasarman, Sacha Ferdinandusse, David S Sinasac, et al.Orphanet Journal of Rare Diseases|January 14, 2024
Clinical, biochemical, and genetic spectrum of MADD in a South African cohort: an ICGNMD studyMichelle Bisschoff, Izelle Smuts, Marli Dercksen, et al.American Journal of Medical Genetics. Part A|March 26, 2018
Clinical, biochemical, and genetic features of four patients with short-chain enoyl-CoA hydratase (ECHS1) deficiencyPatricia E Fitzsimons, Charlotte L Alston, Penelope E Bonnen, et al.JIMD Reports|March 4, 2015
Two Novel Mutations in the SLC25A4 Gene in a Patient with Mitochondrial MyopathyI M L W Körver-Keularts, M de Visser, H D Bakker, et al.Plos One|May 30, 2013
Hydrogen sulfide donor NaHS reduces organ injury in a rat model of pneumococcal pneumosepsis, associated with improved bio-energetic statusHamid Aslami, Wilco P Pulskens, Maria T Kuipers, et al.Journal of Inherited Metabolic Disease|February 5, 2021
Enantiomer-specific pharmacokinetics of D,L-3-hydroxybutyrate: Implications for the treatment of multiple acyl-CoA dehydrogenase deficiencyWillemijn J van Rijt, Johan L K Van Hove, Frédéric M Vaz, et al.Journal of Inherited Metabolic Disease|February 23, 2019
The cholic acid extension study in Zellweger spectrum disorders: Results and implications for therapyFemke C C Klouwer, Bart G P Koot, Kevin Berendse, et al.Molecular Genetics and Metabolism|June 2, 2007
Equine biochemical multiple acyl-CoA dehydrogenase deficiency (MADD) as a cause of rhabdomyolysisC M Westermann, M G M de Sain-van der Velden, J H van der Kolk, et al.The Journal of Gene Medicine|December 9, 2003
Ganciclovir nucleotides accumulate in mitochondria of rat liver cells expressing the herpes simplex virus thymidine kinase geneMarjolijn M van der Eb, Sacha B Geutskens, André B P van Kuilenburg, et al.Pageof 48