Screening metabolico neonatale

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...

Ipoglicemie neonatali: dal sapere al saper fare

Schiulaz I, Paviotti G.

2022/1 — pag. 47-50 — DOI

L’omocistinuria classica in età pediatrica

Ravaglia A, Costagliola G, Spada M

2021/10 — pag. 309-313 — DOI

Classical homocystinuria is an inborn error of methionin metabolism. It is characterized by an accumulation of homocysteine, due to a deficiency of the enzyme involved in its metabolism, namely cystathionine beta synthase. If not treated, the increas...

I difetti di ossidazione degli acidi grassi

2010/8 — pag. 527-528