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Journal of Inherited Metabolic Disease
|
April 26, 2007
Therapeutic concepts in succinate semialdehyde dehydrogenase (SSADH; ALDH5a1) deficiency (gamma-hydroxybutyric aciduria). Hypotheses evolved from 25 years of patient evaluation, studies in Aldh5a1-/- mice and characterization of gamma-hydroxybutyric acid pharmacology
I Knerr, P L Pearl, T Bottiglieri, et al.
Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology
|
May 12, 2004
Photosensitive absence epilepsy with myoclonias and heterozygosity for succinic semialdehyde dehydrogenase (SSADH) deficiency
A Dervent, K M Gibson, P L Pearl, et al.
Seizure
|
July 5, 2016
Automated seizure detection systems and their effectiveness for each type of seizure
A Ulate-Campos, F Coughlin, M Gaínza-Lein, et al.
Neurochemistry International
|
June 18, 2016
Succinic semialdehyde dehydrogenase deficiency (SSADHD): Pathophysiological complexity and multifactorial trait associations in a rare monogenic disorder of GABA metabolism
P Malaspina, J-B Roullet, P L Pearl, et al.
Pediatric Neurology
|
March 1, 1990
Neuropathology of two fatal cases of measles in the 1988-1989 Houston epidemic
P L Pearl, H Abu-Farsakh, J R Starke, et al.
Journal of Inherited Metabolic Disease
|
October 1, 2016
Correlation of blood biomarkers with age informs pathomechanisms in succinic semialdehyde dehydrogenase deficiency (SSADHD), a disorder of GABA metabolism
E E Jansen, K R Vogel, G S Salomons, et al.
Neurology
|
February 28, 2007
Prognosis of children with partial epilepsy: MRI and serial 18FDG-PET
W D Gaillard, S Weinstein, J Conry, et al.
JIMD Reports
|
February 19, 2017
Gamma-Hydroxybutyrate (GHB) Content in Hair Samples Correlates Negatively with Age in Succinic Semialdehyde Dehydrogenase Deficiency
S S Johansen, X Wang, D Sejer Pedersen, et al.
Journal of Inherited Metabolic Disease
|
January 28, 2009
Succinic semialdehyde dehydrogenase deficiency: lessons from mice and men
P L Pearl, K M Gibson, M A Cortez, et al.
Neurology
|
March 13, 2002
Low incidence of abnormal (18)FDG-PET in children with new-onset partial epilepsy: a prospective study
W D Gaillard, L Kopylev, S Weinstein, et al.
Page
of 3
Search research articles
Search
Showing results (11-20 of 29) with videos related to
Sort By:
Page
of 3
Journal of Inherited Metabolic Disease
|
April 26, 2007
Therapeutic concepts in succinate semialdehyde dehydrogenase (SSADH; ALDH5a1) deficiency (gamma-hydroxybutyric aciduria). Hypotheses evolved from 25 years of patient evaluation, studies in Aldh5a1-/- mice and characterization of gamma-hydroxybutyric acid pharmacology
I Knerr, P L Pearl, T Bottiglieri, et al.
Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology
|
May 12, 2004
Photosensitive absence epilepsy with myoclonias and heterozygosity for succinic semialdehyde dehydrogenase (SSADH) deficiency
A Dervent, K M Gibson, P L Pearl, et al.
Seizure
|
July 5, 2016
Automated seizure detection systems and their effectiveness for each type of seizure
A Ulate-Campos, F Coughlin, M Gaínza-Lein, et al.
Neurochemistry International
|
June 18, 2016
Succinic semialdehyde dehydrogenase deficiency (SSADHD): Pathophysiological complexity and multifactorial trait associations in a rare monogenic disorder of GABA metabolism
P Malaspina, J-B Roullet, P L Pearl, et al.
Pediatric Neurology
|
March 1, 1990
Neuropathology of two fatal cases of measles in the 1988-1989 Houston epidemic
P L Pearl, H Abu-Farsakh, J R Starke, et al.
Journal of Inherited Metabolic Disease
|
October 1, 2016
Correlation of blood biomarkers with age informs pathomechanisms in succinic semialdehyde dehydrogenase deficiency (SSADHD), a disorder of GABA metabolism
E E Jansen, K R Vogel, G S Salomons, et al.
Neurology
|
February 28, 2007
Prognosis of children with partial epilepsy: MRI and serial 18FDG-PET
W D Gaillard, S Weinstein, J Conry, et al.
JIMD Reports
|
February 19, 2017
Gamma-Hydroxybutyrate (GHB) Content in Hair Samples Correlates Negatively with Age in Succinic Semialdehyde Dehydrogenase Deficiency
S S Johansen, X Wang, D Sejer Pedersen, et al.
Journal of Inherited Metabolic Disease
|
January 28, 2009
Succinic semialdehyde dehydrogenase deficiency: lessons from mice and men
P L Pearl, K M Gibson, M A Cortez, et al.
Neurology
|
March 13, 2002
Low incidence of abnormal (18)FDG-PET in children with new-onset partial epilepsy: a prospective study
W D Gaillard, L Kopylev, S Weinstein, et al.
Page
of 3