Cation Transport Proteins

Una comune caduta per una rara diagnosi: un caso di emicrania emiplegica

Ferrera G, Gammeri C, di Cataldo G, Gauci MC, Dierna F, Biasco A, Greco F

2024/26 — pag. 8-9 — DOI

The Authors describe the case of a three-year-old girl with hemiplegic migraine triggered by mild trauma; the diagnosis was confirmed through genomic analysis (heterozygous missense variant c.1091>T in the ATP1A2 gene). ...

Il rischio di andare alla deriva sull'iceberg della celiachia

M. Fornaro, R. Gaudino, L. Balanzoni, et al.

2009/2 — pag. 124-125

A 12-year old child with failure-to-thrive had diagnosis of celiac disease at the age of 20 months, in spite of negative serologic markers and only slight histological modifications at the duodenal biopsy. After 10 years of gluten free diet his w...

Il rischio di andare alla deriva sull\'iceberg della celiachia

M. Fornaro, R. Gauno, L. Balanzoni, C. Bortoluzzi, S. Conte, E. Valletta

2009/2

Che strani capelli ha quel bambino?

2004/5 — pag. 326-326

The Authors described a case of a newborn affected by Menkes disease (MNK) with convulsions, connective tissue disorders and hair abnormalities. MNK is an X-linked recessive disorder characterised by a copper-transporting ATPase defect. Subcutaneo...