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Molecular Genetics and Metabolism|April 15, 2018
Pegvaliase for the treatment of phenylketonuria: Results of a long-term phase 3 clinical trial program (PRISM)Janet Thomas, Harvey Levy, Stephen Amato, et al.Clinical and Translational Science|May 31, 2021
Pharmacokinetic, pharmacodynamic, and immunogenic rationale for optimal dosing of pegvaliase, a PEGylated bacterial enzyme, in adult patients with phenylketonuriaYulan Qi, Gina Patel, Joshua Henshaw, et al.The Journal of Pediatrics|September 17, 2010
Prevalence and distribution of the c.1436C→T sequence variant of carnitine palmitoyltransferase 1A among Alaska Native infantsBradford D Gessner, Melanie B Gillingham, Monique A Johnson, et al.Cell Transplantation|November 28, 2018
Autologous Gene and Cell Therapy Provides Safe and Long-Term Curative Therapy in A Large Pig Model of Hereditary Tyrosinemia Type 1Raymond D Hickey, Clara T Nicolas, Kari Allen, et al.The Journal of Pediatrics|April 17, 1998
3-Methylcrotonyl-coenzyme A carboxylase deficiency in Amish/Mennonite adults identified by detection of increased acylcarnitines in blood spots of their childrenK M Gibson, M J Bennett, E W Naylor, et al.Journal of Inherited Metabolic Disease|January 1, 1996
Late-onset holocarboxylase synthetase deficiencyK M Gibson, M J Bennett, W L Nyhan, et al.Journal of Lipid Research|April 7, 1999
Characterization of phosphomevalonate kinase: chromosomal localization, regulation, and subcellular targetingL M Olivier, K L Chambliss, K M Gibson, et al.Journal of Inherited Metabolic Disease|August 13, 2008
SSADH deficiency leads to elevated extracellular GABA levels and increased GABAergic neurotransmission in the mouse cerebral cortexK R Drasbek, I Vardya, M Delenclos, et al.Journal of Child Neurology|April 1, 1994
Holocarboxylase synthetase deficiency: a treatable metabolic disorder masquerading as cerebral palsyM Livne, K M Gibson, N Amir, et al.European Journal of Pediatrics|September 1, 1984
Defective succinic semialdehyde dehydrogenase activity in 4-hydroxybutyric aciduriaK M Gibson, L Sweetman, W L Nyhan, et al.Pageof 25