Succinic semialdehyde dehydrogenase deficiency associated with combined 4-hydroxybutyric and dicarboxylic acidurias: potential for clinical misdiagnosis based on urinary organic acid profiling
Gibson K.M., Goodman S.I., Frerman F.E., and Glasgow A.M. Succinic semialdehyde dehydrogenase deficiency associated with combined 4-hydroxybutyric and dicarboxylic acidurias: potential for clinical misdiagnosis based on urinary organic acid profiling. J Pediatr 114 (1989) 607-610
Hydroxybutyric aciduria: application of a fluorometric assay to the determination of succinic semialdehyde dehydrogenase activity in extracts of cultured human lymphoblasts
Gibson K.M., Lee C.F., Chambliss K.L., et al. Hydroxybutyric aciduria: application of a fluorometric assay to the determination of succinic semialdehyde dehydrogenase activity in extracts of cultured human lymphoblasts. Clin Chim Acta 196 (1991) 219-221
Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene and functional analysis of 27 novel disease-causing mutations in patients with SSADH deficiency
Akaboshi S., Hogema B.M., Novelletto A., et al. Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene and functional analysis of 27 novel disease-causing mutations in patients with SSADH deficiency. Hum Mutat 6 (2003) 442-450
Neurodegeneration with brain iron accumulation, type 1 is characterized by α-, β-, and γ-synuclein neuropathology
Galvin J.E., Giasson B., Hurtig H.I., Lee V.M., and Trojanowski J.Q. Neurodegeneration with brain iron accumulation, type 1 is characterized by α-, β-, and γ-synuclein neuropathology. Am J Pathol 157 (2000) 361-368
Sudden unexpected death in epilepsy patients: risk factors: a systematic review
Monté C.P., Arends J.B., Tan I.Y., Aldenkamp A.P., Limburg M., and de Krom M.C. Sudden unexpected death in epilepsy patients: risk factors: a systematic review. Seizure 16 (2007) 1-7
Comparison of heart mass in seizure patients dying of sudden unexplained death in epilepsy to sudden death due to some other cause
Davis G.G., and McGwin Jr. G. Comparison of heart mass in seizure patients dying of sudden unexplained death in epilepsy to sudden death due to some other cause. Am J Forensic Med Pathol 25 (2004) 23-28