19 results on '"Micheli, Vanna"'
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2. Pediatric neurological syndromes and inborn errors of purine metabolism
3. Late-onset MNGIE without peripheral neuropathy due to incomplete loss of thymidine phosphorylase activity
4. Gene expression and mRNA editing of serotonin receptor 2C in brains of HPRT gene knock-out mice, an animal model of Lesch-Nyhan disease
5. Poly(ADP-ribose) polymerase activity in systemic lupus erythematosus and systemic sclerosis
6. Novel mutations of NP in two patients with purine nucleoside phosphorylase deficiency
7. RSK2 enzymatic assay as a second level diagnostic tool in Coffin-Lowry syndrome
8. Study of the adenosinergic system in the brain of HPRT knockout mouse (Lesch–Nyhan disease)
9. HPRTSardinia: a new point mutation causing HPRT deficiency without Lesch–Nyhan disease
10. Biochemical characterization of the class B acid phosphatase (AphA) of Escherichia coli MG1655
11. Guanine nucleotide depletion induces differentiation and aberrant neurite outgrowth in human dopaminergic neuroblastoma lines: a model for basal ganglia dysfunction in Lesch–Nyhan disease
12. Simple non-radiochemical HPLC-linked method for screening for purine metabolism disorders using dried blood spot
13. Biochemical and molecular study of mentally retarded patient with partial deficiency of hypoxanthine-guanine phosphoribosyltransferase
14. Thiol Disulfide Exchange Modulates the Activity of Aldose Reductase in Intact Bovine Lens as a Response to Oxidative Stress
15. Phenotype and genotype in partial HPRT deficiency
16. Thiopurine methyltransferase activity in the erythrocytes of adults and children: an HPLC-linked assay
17. An HPLC-linked assay of phosphoribosylpyrophosphate synthetase activity in the erythrocytes of adults and children with neurological disorders
18. Determination of nicotinamide phosphoribosyltransferase activity in human erythrocytes: High-performance liquid chromatography-linked method
19. Purine and pyridine nucleotide production in human erythrocytes
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