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