26 results on '"Giudici T"'
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2. Primapterinuria: A Clinical Update
3. Diagnostic screening for mucopolysaccharidoses types I–VII by fluorophore-labelled carbohydrate PAGE
4. Hyperphenylalaninaemia presumably due to carbinolamine dehydratase deficiency: Loading tests with pterin derivatives
5. Screening for tetrahydrobiopterin deficiency in newborns using dried urine on filter paper
6. Primapterinuria: A Clinical Update
7. 7-Substituted Pterins: Loading Experiments with 3'-Mono Deuterated Tetrahydro-L-Biopterin
8. Primapterinuria: A New Variant of Atypical Phenylketonuria
9. Primapterinuria: A New Variant of Atypical Phenylketonuria
10. Neonatal pyruvate carboxylase deficiency with renal tubular acidosis and cystinuria
11. ChemInform Abstract: Pterin Chemistry. Part 92. Loading Experiments with 6α,β- Tetrahydro-L-(3′-2H1)biopterin
12. 7-Substituted Pterins: Loading Experiments with 3'-Mono Deuterated Tetrahydro-L-Biopterin
13. Primapterinuria: A Clinical Update
14. 7-Substituted pterins. A new class of mammalian pteridines.
15. 7-Substituted Pterins: Loading Experiments with 3'-Mono Deuterated Tetrahydro-L-Biopterin
16. Primapterinuria: A Clinical Update
17. ChemInform Abstract: ACYL-UEBERTRAGUNGSRK. VON UND AUF FUNKTIONELLE UREIDO-GRUPPEN 4. MITT. ALLGEMEINE SAEUREKATALYSE DURCH CARBOXYL-NACHBARGRUPPEN BEI DER HYDROLYSE EINES O-ACYL-ISOHARNSTOFFS (2-AMINO-8-CARBOXY-4-OXO-3,1,4-BENZOXAZIN)
18. ChemInform Abstract: SYNTH. VON 2-OXA-BICYCLO(2,2,2)OCTAN
19. ChemInform Abstract: Pterin Chemistry. Part 92. Loading Experiments with 6α,β- Tetrahydro-L-(3′-2H1)biopterin.
20. HPLC analysis of uridine diphosphate sugars: decreased concentrations of uridine diphosphate galactose in erythrocytes and cultured skin fibroblasts from classical galactosemia patients.
21. Orthotopic liver transplantation in the treatment of complications of type 1 Gaucher disease.
22. Methylmalonic and propionic acidemias: lipid profiles of normal and affected human skin fibroblasts incubated with [1-14C]propionate.
23. A new variant of biopterin deficiency.
24. Propionate metabolism by cultured skin fibroblasts from normal individuals and patients with methylmalonicaciduria and propionicacidemia.
25. The synthesis of thyromimetic substances and potential inhibitors of thyroxine.
26. A specific method for the determination of the aldotetroses.
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