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Journal of Inherited Metabolic Disease|July 13, 2020
Metabolic epilepsies amenable to ketogenic therapies: Indications, contraindications, and underlying mechanismsCezar Gavrilovici, Jong M RhoJournal of Inherited Metabolic Disease|January 1, 1987
Peroxisomal disorders: clinical characterizationL Monnens, H HeymansJournal of Inherited Metabolic Disease|May 17, 2014
Long-term effectiveness of enzyme replacement therapy in Fabry disease: results from the NCS-LSD cohort studyL J Anderson, K M Wyatt, W Henley, et al.Journal of Inherited Metabolic Disease|May 20, 2014
Insights into human phosphoglycerate kinase 1 deficiency as a conformational disease from biochemical, biophysical, and in vitro expression analysesAngel L Pey, Maristella Maggi, Giovanna ValentiniJournal of Inherited Metabolic Disease|November 10, 2012
Chronic kidney disease in adolescent and adult patients with phenylketonuriaJulia B Hennermann, Sylvia Roloff, Jutta Gellermann, et al.Journal of Inherited Metabolic Disease|January 1, 1985
Hyperphenylalaninaemia caused by defects in biopterin metabolismS KaufmanJournal of Inherited Metabolic Disease|January 1, 1985
Biosynthesis of tetrahydrobiopterin in manH C Curtius, D Heintel, S Ghisla, et al.Journal of Inherited Metabolic Disease|January 1, 1985
Normal vitamin requirements in neonates and infantsC J BatesJournal of Inherited Metabolic Disease|August 1, 1997
Continuous venovenous haemodiafiltration in the acute phase of neonatal maple syrup urine diseaseP Jouvet, F Poggi, D Rabier, et al.Journal of Inherited Metabolic Disease|August 1, 1997
Adult psychosocial outcome in early-treated phenylketonuriaM D Ris, A M Weber, M M Hunt, et al.Pageof 429