Succinic semialdehyde dehydrogenase deficiency: Lessons from mice and men

Journal of Inherited Metabolic Disease

Volumn 32, Issue 3, 2009, Pages 343-352

  Pearl, P L ^a,e,g   Gibson, K M ^b   Cortez, M A ^c   Wu, Y ^c   Carter Snead III, O ^c   Knerr, I ^d   Forester, K ^a   Pettiford, J M ^a   Jakobs, C ^e   Theodore, W H ^f  

^a GEORGE WASHINGTON UNIVERSITY SCHOOL OF MEDICINE AND HEALTH SCIENCES   (United States)

^b UNIVERSITY OF PITTSBURGH SCHOOL OF MEDICINE   (United States)

^c UNIVERSITY OF TORONTO   (Canada)

^d UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

^e VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^f NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

^g CHILDREN'S NATIONAL MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

3 AMINOPROPYLBUTYLPHOSPHINIC ACID; 4 AMINOBUTYRIC ACID; 4 AMINOBUTYRIC ACID A RECEPTOR; 4 AMINOBUTYRIC ACID B RECEPTOR; 4 AMINOBUTYRIC ACID B RECEPTOR BLOCKING AGENT; 4 HYDROXYBUTYRIC ACID; ANTICONVULSIVE AGENT; ANXIOLYTIC AGENT; FLUMAZENIL C 11; FLUORODEOXYGLUCOSE F 18; PLACEBO; SEROTONIN UPTAKE INHIBITOR; SUCCINATE SEMIALDEHYDE DEHYDROGENASE; TAURINE; TERT BUTYLBICYCLOPHOSPHOROTHIOATE S 35; TOPIRAMATE; VALPROIC ACID; VIGABATRIN;

4 AMINOBUTYRIC ACID BRAIN LEVEL; 4 AMINOBUTYRIC ACID METABOLISM; ABSENCE; ATAXIA; CEREBELLUM ATROPHY; CLINICAL TRIAL; CONFERENCE PAPER; DENTATE NUCLEUS; EEG ABNORMALITY; ELECTROCORTICOGRAPHY; ENZYME DEFICIENCY; EPILEPSY; EPILEPTIC DISCHARGE; EPILEPTIC STATE; FAILURE TO THRIVE; GABAERGIC SYSTEM; GENERALIZED EPILEPSY; GLOBUS PALLIDUS; GRAND MAL EPILEPSY; HUMAN; INTELLECTUAL IMPAIRMENT; KETOGENIC DIET; MENTAL DISEASE; METABOLIC DISORDER; MOUSE MUTANT; MUSCLE HYPOTONIA; NEUROIMAGING; NEUROLOGIC DISEASE; NONHUMAN; NUCLEAR MAGNETIC RESONANCE IMAGING; OBSESSIVE COMPULSIVE DISORDER; PHENOTYPE; POSITRON EMISSION TOMOGRAPHY; RECEPTOR DOWN REGULATION; REM SLEEP; SLEEP DISORDER; SUBTHALAMIC NUCLEUS; SUCCINATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY; TRANSCRANIAL MAGNETIC STIMULATION; VISUAL FIELD DEFECT;

ANIMALS; BRAIN DISEASES, METABOLIC, INBORN; DISEASE MODELS, ANIMAL; HUMANS; MICE; MICE, TRANSGENIC; MODELS, BIOLOGICAL; SUCCINATE-SEMIALDEHYDE DEHYDROGENASE;

EID: 67349195796     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-009-1034-y     Document Type: Conference Paper

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