Hereditary Central Nervous System Demyelinating Diseases

Le larghe spalle della pediatria

2018/2 — pag. 81

Febbri da brivido Quale dose di aspirina per la Kawasaki? To tax or not to tax? Adrenoleucodistrofia (… quella dell’olio di Lorenzo): è tempo di terapia genica Risonanza magnetica cerebrale e incidentalomi Progressi nel trattamento dell’osteoma osteoide Parrot e Casi indimenticabili

2017/9 — pag. 555-556

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...

DOCUMENTO DI INDIRIZZO Le urgenze endocrinologiche

G. Tonini, et al.

2003/9 — pag. 590-595

Many endocrinological disease represent, in particular conditions, a real emergency. Thireotoxicosis in Graves disease, adrenal insufficiency secondary to acute adrenal dysfunction, surgical intervention or acute disease in a SAG affected patients,...

Un caso di leucodistrofia metacromatica tardo- infantile ad esordio simil-autistico

R. Festa, P. Pisano , M. Scalone, M.T. Serpico

2001/5

Leucodistrofia metacromatica a esordio autistico

R. Festa, P. Pisano, M. Scalone, M.T. Serpico

2001/5 — pag. 329-331

Report of a case of metachromatic leucodystrophy of type I started as an autistic syndrome (behaviour disorders, mutacism) which rapidly developed (few months) well-defined neurological symptoms....