mucopolisaccaridosi

Rivista sfogliabile on line

2025/5

Un caso di mucopolisaccaridosi con un possibile lieto fine

Traunero A

2025/5 — pag. 125-126 — DOI

A 4-year-old girl with cognitive delay, behavioural disorders and coarse facial features was diagnosed with mucopolysaccharidosis type IIIA (MPS IIIA or Sanfilippo syndrome) following a targeted clinical and genetic evaluation. From early infancy, sh...

Nostro figlio ha una malattia metabolica rara

R. Rubessa, F. Bertoglio, F. Parizzi, F. Furlan, F. Santus, F. Nichelli, R. Parini, G. Masera

2012/6 — pag. 371-374

Genetic metabolic disorders are multiorgan complex diseases, with only partially effective treatment available. Two families associations (Associazione per la tutela del bambino con malattie metaboliche “ABM” and Associazione Italiana Mucopolisacca...

Una bambina in cattedra

M. Anima

2007/7

Sintomi comuni per malattie rare Un approccio generale del pediatra ai pazienti con malattie rare

G. Tornese, V. Declich, G. Ciana, F. Marchetti, E. Barbi

2007/4 — pag. 230-236

As a rule many patients with rare diseases report their symptoms at first to a paediatrician or to a general practitioner. These are considered “specialists” in the cure of common problems, but also “common” patients and “common” symptoms can hide ...

Le craniosinostosi, viste dal pediatra

G. Bartolozzi, P.A. Donati

1999/1