Thirty years beyond discovery—Clinical trials in succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism

GABAB-ergic motor cortex dysfunction in SSADH deficiency

(2012) J. Reis et al.   NEUROLOGY

Epilepsy in succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism

(2011) Phillip L. Pearl et al.   BRAIN & DEVELOPMENT

Inhibition of Alanine Aminotransferasein Silicoandin VivoPromotes Mitochondrial Metabolism to Impair Malignant Growth

(2011) Gregor Beuster et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Is reduced ornithine-δ-aminotransferase activity the cause of vigabatrin-associated visual field defects?

(2010) Iiris Sorri et al.   EPILEPSY RESEARCH

A new case of GABA transaminase deficiency facilitated by proton MR spectroscopy

(2010) Megumi Tsuji et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Inhibition of the PLP-dependent enzyme serine palmitoyltransferase by cycloserine: evidence for a novel decarboxylative mechanism of inactivation

(2010) Jonathan Lowther et al.   Molecular BioSystems

Déficit de succínico semialdehído deshidrogenasa. Disminución de los niveles de 4 OH butírico con dosis bajas de vigabatrina

(2009) G. Iglesias Escalera et al.   ANALES DE PEDIATRIA

The effects of a ketogenic diet on ATP concentrations and the number of hippocampal mitochondria in Aldh5a1−/− mice

(2009) Kirk Nylen et al.   BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS

Treatment of Mild Cognitive Impairment (MCI)

(2009) M. Farlow   Current Alzheimer Research

Succinic semialdehyde dehydrogenase deficiency: Lessons from mice and men

(2009) P. L. Pearl et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Decreased GABA-A binding on FMZ-PET in succinic semialdehyde dehydrogenase deficiency

(2009) P. L. Pearl et al.   NEUROLOGY

Function of taurine transporter (Slc6a6/TauT) as a GABA transporting protein and its relevance to GABA transport in rat retinal capillary endothelial cells

(2008) Masatoshi Tomi et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES

Neurotransmitter alterations in embryonic succinate semialdehyde dehydrogenase (SSADH) deficiency suggest a heightened excitatory state during development

(2008) Erwin EW Jansen et al.   BMC DEVELOPMENTAL BIOLOGY

Cerebral MRI abnormalities associated with vigabatrin therapy

(2008) Phillip L. Pearl et al.   EPILEPSIA

Circadian distribution of generalized tonic–clonic seizures associated with murine succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism

(2008) Lee S. Stewart et al.   EPILEPSY & BEHAVIOR

Excitatory GABA in Rodent Developing Neocortex In Vitro

(2008) Sylvain Rheims et al.   JOURNAL OF NEUROPHYSIOLOGY

A ketogenic diet rescues the murine succinic semialdehyde dehydrogenase deficient phenotype

(2007) Kirk Nylen et al.   EXPERIMENTAL NEUROLOGY