Alberto Ponzone

High Incidence of Later-Onset Fabry Disease Revealed by Newborn Screening*

Marco Spada, Severo Pagliardini, Makiko Yasuda et al. · The American Journal of Human Genetics · 2006 · 988 citations · Full text

Mendelian Disorder, Pediatrics, Prenatal Diagnosis +4

A European Multicenter Study of Phenylalanine Hydroxylase Deficiency: Classification of 105 Mutations and a General System for Genotype-Based Prediction of Metabolic Phenotype

Per Guldberg, Françoise Rey, Johannes Zschocke et al. · The American Journal of Human Genetics · 1998 · 352 citations · Full text

Metabolic Syndrome, Mendelian Disorder, Biochemistry +11

Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT

Lídia Feliubadaló, Mariona Font, Jesús Purroy et al. · Nature Genetics · 1999 · 329 citations

Genetics, Biochemical Genetics, Molecular Biology +5

Comparison between SLC3A1 and SLC7A9 Cystinuria Patients and Carriers

Luca Dello Strologo, Elon Pras, C. Pontesilli et al. · Journal of the American Society of Nephrology · 2002 · 277 citations

Breastfeeding or Oral Sucrose Solution in Term Neonates Receiving Heel Lance: A Randomized, Controlled Trial

Luigi Codipietro, Manuela Ceccarelli, Alberto Ponzone · PEDIATRICS · 2008 · 125 citations