Alberto Ponzone
Azienda Ospedaliera Citta' della Salute e della Scienza di Torino(IT)University of Turin(IT)
Publications by Year
Research Areas
Metabolism and Genetic Disorders, Folate and B Vitamins Research, Neonatal Health and Biochemistry, Amino Acid Enzymes and Metabolism, Biochemical and Molecular Research
Most-Cited Works
- → High Incidence of Later-Onset Fabry Disease Revealed by Newborn Screening*(2006)997 cited
- → A European Multicenter Study of Phenylalanine Hydroxylase Deficiency: Classification of 105 Mutations and a General System for Genotype-Based Prediction of Metabolic Phenotype(1998)353 cited
- → Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT(1999)332 cited
- → Comparison between SLC3A1 and SLC7A9 Cystinuria Patients and Carriers(2002)278 cited
- → Breastfeeding or Oral Sucrose Solution in Term Neonates Receiving Heel Lance: A Randomized, Controlled Trial(2008)125 cited
- Molecular genetics of cystinuria: identification of four new mutations and seven polymorphisms, and evidence for genetic heterogeneity.(1995)
- → Dihydropteridine reductase deficiency in man: From biology to treatment(2003)82 cited