metabolic diseases

Calcolosi delle vie urinarie

2023/4 — pag. 265 — DOI

La calcolosi delle vie urinarie in età pediatrica a tutto tondo

Faraguna MC, Terranova CM, Peccatori N, Gnech M, Berrettini A, Melzi ML.

2022/7 — pag. 435-440 — DOI

Overall, the incidence of paediatric urolithiasis is increasing; 50-90% of cases are due to metabolic alterations, 3-30% are associated with urinary tract infections and the remaining cases are idiopathic. About 20-30% of children, especially boys wh...

Intestino corto, alterazione dello stato di coscienza e acidosi

M.V. Mastrolia

2020/3 — pag. 62-62

Screening neonatale metabolico allargatoIn arrivo una nuova realtà per la pediatria

I. Bruno, A. Ventura, A. Burlina

2010/7 — pag. 429-433

Newborn expanded screening is slowly starting in Italy. The programme will screen some rare, most metabolic, diseases that could be managed and treated better if diagnosed in the first days of life. The program has been adopted in many countries in...

Un caso di ipertransaminasemia

M. Lazzerini

2003/8

Paolo Durand

M&B

2003/6 — pag. 351-352

I geni della malattia: la cura delle malattie genetiche

L.D. Notarangelo

2001/1 — pag. 24-29

The treatment of genetic diseases is not fruit of the imagination, although too many hasty statements, such as those on gene therapy, created a deep disappointment. Effective medical actions include marrow grafting, replacement treatments (enzymes,...

Capire la nutrizione. Come si sbaglia e come si possono correggere gli errori

C. Galluzzo, M. Giovannini

2000/2 — pag. 85-89

Nutrition is, paradoxically, a major health problem in Italy as in other industrialized countries. Infant and child diet is usually unbalanced, improperly rich in saturated fats and proteins with a low fiber content. It is very difficult to face t...

Le craniosinostosi, viste dal pediatra

G. Bartolozzi, P.A. Donati

1999/1