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13 results on '"Alberto B, Burlina"'

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1. Health-related quality of life in a european sample of adults with early-treated classical PKU

2. Galactose epimerase deficiency: lessons from the GalNet registry

3. Nutrition in adult patients with selected lysosomal storage diseases

4. Food triggers and inherited metabolic disorders: a challenge to the pediatrician

5. Characterization of Human Disease Phenotypes Associated with Mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1

6. Tryptophan Levels, Excessive Exercise, and Nutritional Status in Anorexia Nervosa

7. Behaviour of several enzymes of lysosomal origin in human plasma during pregnancy

8. Serum enzymes of lysosomal origin as indicators of the metabolic control in non-insulin-dependent diabetics

9. Biotin-Responsive Infantile Encephalopathy: EEG-Polygraphic Study of a Case

10. Enzymes of lysosomal origin in the serum of infants of diabetic mothers behavior in the first days after birth

11. Behaviour of some lysosomal enzymes in the plasma of insulin dependent diabetic patients during artificial pancreas treatment

12. Stability of enzymes of lysosomal origin in human cerebrospinal fluid

13. Survey of Italian pediatricians’ perspectives and knowledge about neonatal screening

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