Acid Anhydride Hydrolases

Diagnostica ambulatoriale nella gestione delle infezioni respiratorie acute nelle cure primarie pediatriche

Reggiani L.

2025/9 — pag. 573-582 — DOI

In recent years, the possibility of performing diagnostic tests in the physician’s office (Point of Care) has made countless advances: both in the etiological investigation of viruses or bacteria through pharyngeal or nasopharyngeal swabs or via bloo...

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). ...

Un cuore grande così... dalla nascita

Troisi A, Bruno I, Ragni L, Nuzzo A, Marchetti F

2024/2 — pag. 30-31 — DOI

The diagnosis of dilatative cardiomyopathy due to a new mutation of MYH7 gene was eventually made in a 1-month-old infant presenting with dyspnoea and difficult feeding. ...

Macrotrombocitopenia, dismorfismi facciali e ritardo dello sviluppo psicomotorio: alla scoperta del gene CDC42

Fabbri E, Giardinelli S, Filippini B, Gasperini P, Mazzocco M, Radice C, Marchetti F, Pericoli R

2022/9 — pag. 181-186 — DOI

Cell Division Control 42 (CDC42) gene encodes for a small GTPase with a fundamental role in controlling intracellular signaling pathway. Gene mutations can cause different phenotypic manifestations, which reflect the variety of the role of this media...

Sindrome di Costello

C. Leoni, P. Cianci, G. Zampino, A. Selicorni

2019/6 — pag. 383-386

Troppo stanca troppo presto: la leucemia mielomonocitica giovanile

S. Contorno

2019/4 — pag. 95-95

Un’impensata pubertà

L. Baggio, M. Mauro, P. Cavarzere

2017/2

Inspiegabili bernoccoli

M.C. Pellegrin, A. Delise, D. Sanabor, E. Faleschini, I. Bruno

2015/3 — pag. 193-195

Fibrous dysplasia (FD) is a nonhereditary benign condition in which medullary bone is replaced by immature bone and fibrous tissue. It accounts for 7% of all benign bone tumours and usually presents in the first three decades of life. FD arises f...

Inspiegabili bernoccoli

M.C. Pellegrin, A. Delise, D. Sanabor, E. Faleschini, I. Bruno

2015/3

Fibrous dysplasia (FD) is a nonhereditary benign condition in which medullary bone is replaced by immature bone and fibrous tissue. It accounts for 7% of all benign bone tumours and usually presents in the first three decades of life. FD arises f...

Displasia fibrosa poliostotica

E. Benelli, G. Tornese, M. Maschio

2015/1

Eteroplasia ossificante progressiva: una nuova mutazione del gene GNAS1 e rassegna della letteratura

S. Mattia, G. Mantovani, N. Guaraldi, R. Pagano, A. Venuta, P. Ferrari

2008/3 — pag. 193-194

Progressive osseous heteroplasia (PHO) is a recently described genetic disorder of mesenchymal differentiation characterized by dermal ossification during infancy and by progressive heterotopic ossification of cutaneous, subcutaneous and deep con...

Eteroplasia ossificante progressiva: una nuova mutazione del gene GNAS1 e review della letteratura

S. Mattia, G. Mantovani, N. Guaral, R. Pagano, A. Venuta, P. Ferrari

2008/3

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...

Inibizione dell'apoptosi da parte degli anticorpi monoclonali umani anti-transglutaminasili

A. Tommasini, M. Soban, I. Berti, C. Trevisiol, E. Panfili, D. Santon, V. Baldas, E. Fragonas

2000/6