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Journal of Inherited Metabolic Disease|May 25, 2011
Aberrant expression of costimulatory molecules in splenocytes of the mevalonate kinase-deficient mouse model of human hyper-IgD syndrome (HIDS)Elizabeth J Hager, Jon D Piganelli, Hubert M Tse, et al.American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|October 13, 2012
Heritable disorders in the metabolism of the dolichols: A bridge from sterol biosynthesis to molecular glycosylationLynne A Wolfe, Eva Morava, Miao He, et al.Clinical Biochemistry|November 22, 2005
Inherited disorders of neurotransmitters in children and adultsPhillip L Pearl, Philip K Capp, Edward J Novotny, et al.Molecular Genetics and Metabolism|December 28, 2020
Dysbiosis of the intestinal microbiome as a component of pathophysiology in the inborn errors of metabolismTrevor O Kirby, Javier Ochoa-Reparaz, Jean-Baptiste Roullet, et al.Human Genomics|January 24, 2009
Comparative genomics of aldehyde dehydrogenase 5a1 (succinate semialdehyde dehydrogenase) and accumulation of gamma-hydroxybutyrate associated with its deficiencyPatrizia Malaspina, Matthew J Picklo, C Jakobs, et al.Molecular Genetics and Metabolism|August 29, 2006
Identification of Alu-mediated, large deletion-spanning exons 2-4 in a patient with mitochondrial acetoacetyl-CoA thiolase deficiencyGaixiu Zhang, Toshiyuki Fukao, Satomi Sakurai, et al.Brain & Development|June 14, 2011
Epilepsy in succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolismPhillip L Pearl, Lovy Shukla, William H Theodore, et al.Journal of Inherited Metabolic Disease|September 15, 2012
Non-physiological amino acid (NPAA) therapy targeting brain phenylalanine reduction: pilot studies in PAHENU2 miceKara R Vogel, Erland Arning, Brandi L Wasek, et al.Molecular Genetics and Metabolism|December 13, 2021
Intestinal Dysbiosis as a component of pathophysiology in succinic semialdehyde dehydrogenase deficiency (SSADHD)Trevor O Kirby, Xutong Shi, Dana Walters, et al.Molecular Genetics and Metabolism|September 4, 2013
Characterization of 2-(methylamino)alkanoic acid capacity to restrict blood-brain phenylalanine transport in Pah enu2 mice: preliminary findingsKara R Vogel, Erland Arning, Brandi L Wasek, et al.Pageof 15