(Q28264935)

12 December 2020

The first adult case with 4-hydroxybutyric aciduria.

1 reference

12 December 2020

Urinary organic acids in succinic semialdehyde dehydrogenase deficiency: evidence of alpha-oxidation of 4-hydroxybutyric acid, interaction of succinic semialdehyde with pyruvate dehydrogenase and possible secondary inhibition of mitochondrial beta-o

1 reference

12 December 2020

Pyridoxine-dependent seizures: report of a case with atypical clinical features and abnormal MRI scans

1 reference

12 December 2020

Reference values for free gamma-aminobutyric acid determined by ion-exchange chromatography and fluorescence detection in the cerebrospinal fluid of children

1 reference

12 December 2020

Prenatal detection of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria)

1 reference

12 December 2020

Some properties of a homocarnosine-carnosine synthetase isolated from rat brain.

1 reference

12 December 2020

Studies on the metabolism of glycolyl-CoA.

1 reference

12 December 2020

Homocarnosinosis: lack of serum carnosinase is the defect probably responsible for elevated brain and CSF homocarnosine

1 reference

12 December 2020

Homocarnosinosis. 3. Spinal fluid amino acids in familial spastic paraplegia

1 reference

12 December 2020

Gamma-aminobutyric acid-transaminase deficiency: a newly recognized inborn error of neurotransmitter metabolism

1 reference

12 December 2020

Homocarnosinosis: hypercarnosinuria

1 reference

12 December 2020

Gammahydroxybutyrate: an endogenous regulator of energy metabolism

1 reference

12 December 2020

Inborn errors of GABA metabolism

1 reference

12 December 2020

Further evaluation of Vigabatrin therapy in 4-hydroxybutyric aciduria

1 reference

12 December 2020

Urinary excretion of gamma-hydroxybutyric acid in a patient with neurological abnormalities. The probability of a new inborn error of metabolism

1 reference

12 December 2020

Identification of the 64K autoantigen in insulin-dependent diabetes as the GABA-synthesizing enzyme glutamic acid decarboxylase

1 reference

12 December 2020

Serum Carnosinase Deficiency Concomitant with Mental Retardation

1 reference

12 December 2020

Brain neurotransmitters and neuromodulators in pediatrics

1 reference

12 December 2020

Two human glutamate decarboxylases, 65-kDa GAD and 67-kDa GAD, are each encoded by a single gene

1 reference

12 December 2020

Cloning and expression of the Escherichia coli K-12 sad gene

1 reference

12 December 2020

Oxidation of [U-14C]succinic semialdehyde in cultured human lymphoblasts: measurement of residual succinic semialdehyde dehydrogenase activity in 11 patients with 4-hydroxybutyric aciduria

1 reference

12 December 2020

Stable isotope dilution analysis of GABA in CSF using simple solvent extraction and electron-capture negative-ion mass fragmentography.

1 reference

12 December 2020

Brain 4-aminobutyrate aminotransferase. Isolation and sequence of a cDNA encoding the enzyme

1 reference

12 December 2020

Stable isotope dilution analysis of 4-hydroxybutyric acid: an accurate method for quantification in physiological fluids and the prenatal diagnosis of 4-hydroxybutyric aciduria

1 reference

12 December 2020

Vitamin B 6 -dependency of glutamic acid decarboxylase in the kidney from a patient with vitamin B 6 dependent convulsion

1 reference

12 December 2020

Neurotransmitters and CNS disease. Introduction

1 reference

12 December 2020

Molecular analysis of two genes of the Escherichia coli gab cluster: nucleotide sequence of the glutamate:succinic semialdehyde transaminase gene (gabT) and characterization of the succinic semialdehyde dehydrogenase gene (gabD)

1 reference

12 December 2020

Serum carnosinase deficiency: a non-disabling phenotype?

1 reference

12 December 2020

Enzymatic and immunological demonstration of normal and defective succinic semialdehyde dehydrogenase activity in fetal brain, liver and kidney.

1 reference

12 December 2020

Demonstration of 4-aminobutyric acid aminotransferase deficiency in lymphocytes and lymphoblasts.

1 reference

12 December 2020

Review: Normal and abnormal central nervous system GABA metabolism in childhood

1 reference

12 December 2020

Homocarnosinosis. 2. A familial metabolic disorder associated with spastic paraplegia, progressive mental deficiency, and retinal pigmentation

1 reference

12 December 2020

Postneonatal vitamin B6-dependent epilepsy

1 reference

12 December 2020