18 results on '"Salomons, G.S."'
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2. Therapeutic relevance of mTOR inhibition in murine succinate semialdehyde dehydrogenase deficiency (SSADHD), a disorder of GABA metabolism
3. Pyridoxine responsive epilepsy caused by a novel homozygous PNPO mutation
4. A pilot study to estimate incidence of guanidinoacetate methyltransferase deficiency in newborns by direct sequencing of the GAMT gene
5. P53 – 2940: Pyridoxine responsive epilepsy in PNPO deficiency: A case report
6. Creatine deficiency syndrome. A treatable myopathy due to arginine–glycine amidinotransferase (AGAT) deficiency
7. Guanidinoacetate methyltransferase deficiency: First steps to newborn screening for a treatable neurometabolic disease
8. A lymphoblast model for IDH2 gain-of-function activity in d-2-hydroxyglutaric aciduria type II: Novel avenues for biochemical and therapeutic studies
9. Novel mutations in pyridoxine-dependent epilepsy
10. 65 CLINICAL, BIOCHEMICAL AND GENETIC FEATURES IN TRANSALDOLASE DEFICIENCY, A NEW DISORDER IN PEDIATRIC HEPATOLOGY
11. Déficit de succínico semialdehído deshidrogenasa. Disminución de los niveles de 4 OH butírico con dosis bajas de vigabatrina
12. l-2-Hydroxyglutaric aciduria presenting with severe autistic features
13. Mutation analysis a prerequisite for prenatal diagnosis of l-2-hydroxyglutaric aciduria?
14. A prevalent pathogenic GAMT mutation (c.59G>C) in Portugal
15. d-2-Hydroxyglutaric aciduria in three patients with proven SSADH deficiency: Genetic coincidence or a related biochemical epiphenomenon?
16. Photosensitive absence epilepsy with myoclonias and heterozygosity for succinic semialdehyde dehydrogenase (SSADH) deficiency
17. The molecular basis of succinic semialdehyde dehydrogenase deficiency in one family
18. Prenatal Diagnosis of Succinic Semialdehyde Dehydrogenase Deficiency: Increased Accuracy Employing DNA, Enzyme, and Metabolite Analyses
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