Urea Cycle Disorders, Inborn

Guida essenziale alla gestione nutrizionale nello scompenso metabolico acuto in Pediatria

Cimador V, Candela E, Pancaldi C, Biasucci G, Bortolamedi E, Ortolano R, Baronio F, Lanari M.

2026/3 — pag. 161-166 — DOI

Background - Inherited metabolic diseases (IMDs) are a heterogeneous group of rare disorders in which nutritional management is the cornerstone of therapy, both in chronic and acute phases. In cases of acute metabolic decompensation, the timely imple...

Non è mai troppo tardi...per fare una diagnosi

G. Maggiore, S. Nastasio, G. Rossi, M. Sciveres

2012/6

Una strana crisi isterica

P. Chiaretti, M. Chiaretti

2010/4

Coma e insufficienza epatica

M. Don, F. Marchetti, P. Salierno, A.M. Franzil, M. Maschio, B. Sacher, A. Burlina, A. Ventura

2008/10 — pag. 671-677

The work describes the case of a two-and-half-year-old girl who showed a clinical picture of neurologic impairment together with laboratory signs of liver insufficiency coupled with hyperammonemia. Some comments on this clinical case and how the diag...