ATP-Binding Cassette Transporters

BRIC o PFIC?

Gibellato E, Lauriola RS, D'Antiga L

2025/10 — pag. 257-259 — DOI

A 9-year-old boy of Moldovan origin presented to the Emergency Room with jaundice and pruritus persisting for two months. His medical history revealed recurrent, self-limiting episodes and a recent hospitalization in Moldova for hyperbilirubinemia tr...

Un raro caso: ittiosi di Arlecchino neonatale

Rossi D, Gilardi C, Mangili G

2025/9 — pag. 245-246 — DOI

The paper reports the case of a term newborn from consanguineous parents with diffuse hyperkeratotic plaques, ectropion, eclabium and auricular malformations. He was diagnosed with Harlequin ichthyosis, a rare autosomal recessive disorder caused by A...

Una colestasi che ritorna

Medici F

2022/8 — pag. 527-530 — DOI

The case of a 13-month-old girl with recurrent cholestasis finally diagnosed with BRIC (Benign Recurrent Intrahepatic Cholestasis) is described. The clinical, therapeutic and prognostic implications of BRIC are also discussed....

Il neonato a colori: a strisce colorate (Arlecchino)

G. Corsello, M. Schierz

2018/10 — pag. 649-650

A volte... ritornano. Una rettocolite "difficile".

2009/4 — pag. 257-258