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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.Journal of Inherited Metabolic Disease|September 2, 2022
Impact of pregnancy planning and preconceptual dietary training on metabolic control and offspring's outcome in phenylketonuriaKarina Grohmann-Held, Peter Burgard, Christoph G O Baerwald, et al.Journal of Inherited Metabolic Disease|January 17, 2022
Solvent accessibility of E1α and E1β residues with known missense mutations causing pyruvate dehydrogenase complex (PDC) deficiency: Impact on PDC-E1 structure and functionNicole H Ducich, Jason A Mears, Jirair K BedoyanJournal of Inherited Metabolic Disease|December 3, 2021
Insight on molecular pathogenesis and pharmacochaperoning potential in phosphomannomutase 2 deficiency, provided by novel human phosphomannomutase 2 structuresAlvaro Briso-Montiano, Francisco Del Caño-Ochoa, Alicia Vilas, et al.Journal of Inherited Metabolic Disease|August 3, 2019
Tetrahydrobiopterin treatment in phenylketonuria: A repurposing approachRoeland A F Evers, Danique van Vliet, Francjan J van SpronsenJournal of Inherited Metabolic Disease|January 1, 1986
Diagnosis in relationship to treatment of hyperphenylalaninaemiaM E BlaskovicsJournal of Inherited Metabolic Disease|February 16, 2019
New insights into human lysine degradation pathways with relevance to pyridoxine-dependent epilepsy due to antiquitin deficiencyLisa M Crowther, Déborah Mathis, Martin Poms, et al.Journal of Inherited Metabolic Disease|January 14, 2021
Brain MR patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patientsOya Kuseyri Hübschmann, Alexander Mohr, Jennifer Friedman, et al.Journal of Inherited Metabolic Disease|May 3, 2014
Defects of thiamine transport and metabolismGarry BrownJournal of Inherited Metabolic Disease|May 3, 2014
Use of sapropterin dihydrochloride in maternal phenylketonuria. A European experience of eight casesFrançois Feillet, Ania C Muntau, François-Guillaume Debray, et al.Pageof 429