- Focal neurometabolic alterations in mice deficient for succinate semialdehyde dehydrogenaseK M Gibson
Department of Molecular and Medical Genetics and Pediatrics, Oregon Health and Science University, Portland 97201, USA
J Neurochem 81:71-9. 2002..We conclude that SSADH-deficient mice represent a valid metabolic model of human SSADH deficiency, manifesting focal neurometabolic abnormalities which could provide key insights into pathophysiologic mechanisms...
- Gamma-hydroxybutyric aciduria: a biochemist's education from a heritable disorder of GABA metabolismK M Gibson
Biochemical Genetics Laboratory, Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, Oregon, USA
J Inherit Metab Dis 28:247-65. 2005..This scientific evolution admirably supports the life and ideals of Dr George Komrower, in whose honour this lecture is named...
- 3-methylglutaconic aciduria type I in a boy with fever-associated seizuresSabine Illsinger
Department of Paediatrics, Medical School Hanover, Hanover, Germany
Pediatr Neurol 30:213-5. 2004..Mutation analysis in the AUH gene revealed homozygosity for a novel splice site mutation IVS9-2A>G. We conclude that MGA1 may be associated with fever-associated seizures even in children without delayed psychomotor development...