Genotype

Disturbi dello spettro autistico: fenotipi, genotipi, marcatori e prospettive terapeutiche

Marini M

2024/6 — pag. 104-115 — DOI

This paper takes stock of the current knowledge on the subject of autism spectrum disorders in a fairly detailed way and with relatively simple language. It highlights the main knowledge and concepts shared by the scientific community, which has rece...

La Pediatria davanti alla sfida della Medicina di precisione

Biondi A

2021/1 — pag. 7-8 — DOI

Il bambino con eccesso di crescita tra variabilità clinica ed eterogeneità genetica

G. Serra, M. Schierz, V. Antona, C.F. Giardina, M. Giuffrè, E. Piro, G. Corsello

2020/4 — pag. 243-248

Either in the newborn or in the child overgrowth can be generalized or localized if it is limited to one or more body regions. When overgrowth depends on a metabolic imbalance, or it is constitutional, the excessive growth can be the only clinical si...

Una doppia colestasi in famiglia

G. Paloni, C. Zanchi, D. Giglia, F. Mastrobuoni

2008/7

Sindrome adreno-genitale congenita da deficit di 21-idrossilasi

A. Balsamo, A. Cicognani

2005/5 — pag. 293-301

Congenital adrenal hyperplasia (CAH) refers to a group of inherited disorders of adrenal steroidogenesis. More than 90% of CAH is due to 21-hydroxylase deficiency (21-OH-D), found in 1:10.000 to 1:15.000 live births as classical form and detected i...

L'epatite B (parte prima)

G. Bartolozzi

2004/6

Caratterizzazione genetica e terapia enzimatica sostitutiva nella forma neurologica acuta della malattia di Gaucher

G. Ciana, C. Martini, M. Romano, B. Bembi

2002/2

L’infezione da HCV: ancora molte incertezze

L. Zancan, G. Svegliado, G. Guariso

1999/5 — pag. 311-314

HCV infection represents an emerging problem in an era of achieved control of HBV infection. There are still many open issues that the Authors briefly discuss. They regard the mechanisms of hepatic damage leading to chronic disease in a high propor...

Fibrosi cistica: dal gene alla pratica

L. Giglio, D. Faraguna

1999/1 — pag. 21-25

The identification of CF gene prompted several advances in the understanding of the disease, as well as practical improvements in the diagnosis. New perspectives are also open with respect to screening programs and therapeutic implications. At pres...

La trasmissione perinatale dell’HCV

M. Resti e coll.

1998/8 — pag. 529-534

Mother-to-child HCV transmission is an emergent problem, but risk factors for vertical transmission are still not completely known. Previous reports have shown extremely different transmission rates ranging from 5.6% to 36%. The importance of HI...