Errori congeniti del metabolismo

Anche il naso vuole la sua parte: quando l’odore può essere diagnostico

Candela E, Tagliaferri F, Baldo F.

2025/8 — pag. 503-506 — DOI

The distinctive body smell of a newborn or a child may be the sign of an underlying inherited metabolic disorder, and sometimes even the sole diagnostic key to identify severe genetic conditions in life or death situations (such as a coma). A quick r...

Screening neonatale esteso

Malni I, Candela E, Baldo F, Assirelli V, Daniotti M, Procopio E, Ruoppolo M, Pession A.

2023/9 — pag. 563-567 — DOI

Newborn screening is a test performed in the first days of life through which, just with some blood drops, it is possible to identify 49 conditions, including cystic fibrosis, congenital hypothyroidism, and numerous inborn errors of metabolism. The i...

La solita anemia sideropenica non responsiva

Talloa D

2023/3 — pag. 54-54 — DOI

The author describes the case of a 15-year-old girl presenting with unresponsive iron deficiency anaemia and splenomegaly finally diagnosed as Gaucher’s disease....

Una intolleranza al fruttosio a 11 anni

G. Zanella

2017/4

Malattia delle urine a sciroppo d’acero e screening neonatale metabolico allargato

2016/8 — pag. 524-525

Difetto di mevalonato-chinasi: molte facce di una stessa malattia

C. De Pieri, A. Insalaco, A. Taddio, E. Barbi, L. Lepore, A. Tommasini, A. Ventura

2013/8 — pag. 501-506

Mevalonate kinase deficiency (MKD), also known as Hyper IgD syndrome, is an inborn error of metabolism characterized by inflammatory dysregulation and, in most severe cases, neurodevelopmental delay. The clinical phenotype of each patient depends o...

I vaccini nei pazienti con malattie del metabolismo

G. Bartolozzi

2006/8