Fatty Acids

Quando la rabdomiolisi risponde al glucosio

Di Nora A, La Spina L, Meli C, Ruggieri M

2023/5 — pag. 91-91 — DOI

The case of an 8-year-old boy complaining easy tiredness, poor exercise tolerance and high CPK blood level is described. The diagnosis of glutaric aciduria type II was finally made....

La sindrome di Zellweger: un lavoro di squadra

Acquaviva I, Cesaroni E, Siliquini S, Sessa F, Marini C

2021/8 — pag. 233-240 — DOI

A 1-month female infant with hypotonia, feeding difficulties, facial dysmorphic signs, hepatomegaly and seizures was admitted to the neonatal intensive care unit. Brain magnetic resonance revealed regions of cortical dysplasia, diffuse polymicrogyria...

Disordini dello "spettro Zellweger": rara causa di convulsioni e ipotonia nel neonato

G. Stangoni, T. Becchetti, G.M. Campus, A. Fantauzzi, R. Scattoni, A. Zeringyte

2016/9 — pag. 602-604

The paper describes a case of a newborn suffering from severe hypotonia and drug-resistant seizures, who was diagnosed with a “Zellweger spectrum” disease by means of biochemical and enzymatic tests. The “Zellweger spectrum” disorders are a group...

Disordini dello “spettro Zellweger”: rara causa di convulsioni e ipotonia nel neonato

G. Stangoni, T. Becchetti, G.M. Campus, A. Fantauzzi, R. Scattoni, A. Zeringyte

2016/9