Maria Cristina Schiaffino

Early-onset combined methylmalonic aciduria and homocystinuria: neuroradiologic findings.

Andrea Rossi, R. Cerone, Roberta Biancheri et al. · PubMed · 2001 · 74 citations · Full text

Medicine, Biochemistry, Pediatrics +13

Mutations in the 4-hydroxyphenylpyruvate dioxygenase gene (HPD) in patients with tyrosinemia type III

Ulla Rüetschi, R. Cerone, Celia Pérez‐Cerdá et al. · Human Genetics · 2000 · 58 citations

Life Sciences, Genetics, Molecular Genetics +13

Short-term survival of hyperammonemic neonates treated with dialysis

Stefano Picca, Carlo Dionisi‐Vici, Andrea Bartuli et al. · Pediatric Nephrology · 2014 · 54 citations

Medicine, Nephrology, Pediatrics +14

Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience

Margherita Ruoppolo, Sabrina Malvagia, Sara Boenzi et al. · International Journal of Neonatal Screening · 2022 · 54 citations · Full text

Medicine, Biochemistry, Early Detection +16

Severe Epilepsy in X‐Linked Creatine Transporter Defect (CRTR‐D)

Maria Margherita Mancardi, Ubaldo Caruso, Maria Cristina Schiaffino et al. · Epilepsia · 2007 · 49 citations · Full text

Medicine, Neurology, Neuroscience +16