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Nutrients|December 11, 2022
Complications of the Low Phenylalanine Diet for Patients with Phenylketonuria and the Benefits of Increased Natural ProteinNicole McWhorter, Mesaki K Ndugga-Kabuye, Marja Puurunen, et al.Molecular Genetics and Metabolism|January 13, 2006
Metabolic changes associated with hyperammonemia in patients with propionic acidemiaHeather R Filipowicz, Sharon L Ernst, Carrie L Ashurst, et al.Molecular Genetics and Metabolism|September 28, 2013
Evidence-based treatment of guanidinoacetate methyltransferase (GAMT) deficiencyKrista S Viau, Sharon L Ernst, Marzia Pasquali, et al.Molecular Genetics and Metabolism|June 26, 2012
Glutaric acidemia type 1: outcomes before and after expanded newborn screeningKrista Viau, Sharon L Ernst, Rena J Vanzo, et al.Molecular Genetics and Metabolism|July 18, 2017
Anaplerotic therapy in propionic acidemiaNicola Longo, Leisa B Price, Eduard Gappmaier, et al.Journal of Inherited Metabolic Disease|May 11, 2011
Correlation of age-specific phenylalanine levels with intellectual outcome in patients with phenylketonuriaKrista S Viau, Heidi J Wengreen, Sharon L Ernst, et al.American Journal of Medical Genetics. Part A|January 19, 2008
Progressive cerebral vascular degeneration with mitochondrial encephalopathyNicola Longo, Iris Schrijver, Hannes Vogel, et al.Nature Metabolism|September 28, 2023
Efficacy and safety of a synthetic biotic for treatment of phenylketonuria: a phase 2 clinical trialJerry Vockley, Neal Sondheimer, Marja Puurunen, et al.Pageof 1