576 results on '"Gibson, K. M."'
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2. Efficacy of Vigabatrin Intervention in a Mild Phenotypic Expression of Succinic Semialdehyde Dehydrogenase Deficiency
3. Biochemical Studies
4. Correlation of blood biomarkers with age informs pathomechanisms in succinic semialdehyde dehydrogenase deficiency (SSADHD), a disorder of GABA metabolism
5. Therapeutic liver repopulation for phenylketonuria
6. Visual evoked potentials in succinate semialdehyde dehydrogenase (SSADH) deficiency
7. Development and implementation of a novel assay for l-2-hydroxyglutarate dehydrogenase (l-2-HGDH) in cell lysates: l-2-HGDH deficiency in 15 patients with l-2-hydroxyglutaric aciduria
8. Behavioral effects and pharmacokinetics of gamma-hydroxybutyrate (GHB) precursors gamma-butyrolactone (GBL) and 1,4-butanediol (1,4-BD) in baboons
9. Succinic semialdehyde dehydrogenase deficiency: Lessons from mice and men
10. Measurement of d-2-hydroxyglutarate dehydrogenase activity in cell homogenates derived from d-2-hydroxyglutaric aciduria patients
11. SSADH deficiency leads to elevated extracellular GABA levels and increased GABAergic neurotransmission in the mouse cerebral cortex
12. Essential fatty acid profiling for routine nutritional assessment unmasks adrenoleukodystrophy in an infant with isovaleric acidaemia
13. Incidence of 3-hydroxy-3-methylglutaryl-coenzyme A lyase (HL) deficiency in Brazil, South America
14. Deletion of a single mevalonate kinase (Mvk) allele yields a murine model of hyper-IgD syndrome
15. Evidence for oxidative stress in tissues derived from succinate semialdehyde dehydrogenase-deficient mice
16. Novel insights into L-2-hydroxyglutaric aciduria: Mass isotopomer studies reveal 2-oxoglutaric acid as the metabolic precursor of L-2-hydroxyglutaric acid
17. Therapeutic concepts in succinate semialdehyde dehydrogenase (SSADH; ALDH5a1) deficiency (γ-hydroxybutyric aciduria). Hypotheses evolved from 25 years of patient evaluation, studies in Aldh5a1 −/− mice and characterization of γ-hydroxybutyric acid pharmacology
18. Clinical, enzymatic and molecular characterization of nine new patients with malonyl-coenzyme A decarboxylase deficiency
19. Kinetic characterization of human hydroxyacid–oxoacid transhydrogenase: Relevance toD-2-hydroxyglutaric and γ-hydroxybutyric acidurias
20. Determination of the GABA analogue succinic semialdehyde in urine and cerebrospinal fluid by dinitrophenylhydrazine derivatization and liquid chromatography–tandem mass spectrometry: Application to SSADH deficiency
21. Gamma-hydroxybutyric aciduria: A biochemist’s education from a heritable disorder of GABA metabolism
22. Efficacy of Vigabatrin Intervention in a Mild Phenotypic Expression of Succinic Semialdehyde Dehydrogenase Deficiency
23. Molecular characterization of methylmalonate semialdehyde dehydrogenase deficiency
24. 3-Methylglutaconyl-CoA hydratase deficiency: A new patient with speech retardation as the leading sign
25. Malonic aciduria in Maltese dogs: Normal methylmalonic acid concentrations and malonyl-CoA decarboxylase activity in fibroblasts
26. 4-Aminobutyrate aminotransferase (GABA-transaminase) deficiency
27. 3-Methylglutaconic aciduria and hypermethioninaemia in a child with clinical and neuroradiological findings of Leigh disease
28. Variable clinical presentation in three patients with 3-methylglutaconyl-coenzyme A hydratase deficiency
29. Unusual enzyme findings in five patients with metabolic profiles suggestive of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria)
30. International Symposium on Pediatric Neurotransmitter Diseases
31. Differing clinical presentation of succinic semialdehyde dehydrogenase deficiency in adolescent siblings from Lifu Island, New Caledonia
32. Mevalonate kinase deficiency in a dizygotic twin with mild mevalonic aciduria
33. Late-onset holocarboxylase synthetase deficiency
34. Seizures in a boy with succinic semialdehyde dehydrogenase deficiency treated with vigabatrin (γ-vinyl-GABA)
35. Altered cerebral glucose and acetate metabolism in succinic semialdehyde dehydrogenase-deficient mice: evidence for glial dysfunction and reduced glutamate/glutamine cycling
36. Therapeutic concepts in succinate semialdehyde dehydrogenase (SSADH; ALDH5a1) deficiency (γ-hydroxybutyric aciduria). Hypotheses evolved from 25 years of patient evaluation, studies in Aldh5a1−/− mice and characterization of γ-hydroxybutyric acid pharmacology
37. Enzymatic and metabolic evidence for a region specific mitochondrial dysfunction in brains of murine succinic semialdehyde dehydrogenase deficiency (Aldh5a1−/− mice)
38. Segregation of the N301T mutation in the family of the index patient with mevalonate kinase deficiency
39. Vigabatrin therapy in six patients with succinic semialdehyde dehydrogenase deficiency
40. Succinic semialdehyde dehydrogenase deficiency: clinical, biochemical and molecular characterization of a new patient with severe phenotype and a novel mutation
41. Pre- and postnatal diagnosis of succinic semialdehyde dehydrogenase deficiency using enzyme and metabolite assays
42. Fatal cardiomyopathy associated with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
43. Neurological manifestations of organic acid disorders
44. Reliable prenatal diagnosis of Canavan disease (aspartoacylase deficiency): Comparison of enzymatic and metabolite analysis
45. Multiple respiratory chain abnormalities associated with hypertrophic cardiomyopathy and 3-methylglutaconic aciduria
46. Inherited disorders of GABA metabolism
47. Enzymatic and immunological demonstration of normal and defective succinic semialdehyde dehydrogenase activity in fetal brain, liver and kidney
48. d-2-Hydroxyglutaric aciduria in a newborn with neurological abnormalities: A new neurometabolic disorder?
49. Combined malonic, methylmalonic and ethylmalonic acid semialdehyde dehydrogenase deficiencies: An inborn error of β-alanine,l-valine andl-alloisoleucine metabolism?
50. Kinetic characterization of human hydroxyacid-oxoacid transhydrogenase: Relevance to D-2-hydroxyglutaric and γ-hydroxybutyric acidurias
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