Stable genetic modification of adult stem cells is fundamental for both developmental
studies and therapeutic purposes. Using in vivo marking studies, we showed that injection of …

Metachromatic leukodystrophy (MLD) is a lipidosis caused by deficiency of arylsulfatase A (ARSA).
Although the genetics of MLD are known, its pathophysiology is not understood. The …

The discovery that mammalian target of rapamycin (mTOR) inhibition increases lifespan in
mice and restores/delays many aging phenotypes has led to the identification of a novel …

Purpose. To evaluate retrospectively the efficiency of our rehabilitation programme for patients
with Prader–Willi Syndrome. In total, 49 patients were examined, 21 female and 28 male, …

Twitcher (GALC twi/twi ) is the murine model of globoid cell leukodystrophy (GLD or Krabbe
disease), a disease caused by mutations of the lysosomal enzyme galactocerebrosidase (…

Background, rationale, and methods . Lesch-Nyhan disease is a rare, X-linked disorder due
to hypoxanthine phosphoribosyltransferase deficiency. To evaluate reported benefit on …

Glycogenosis type II, or Pompe Disease, is a lysosomal storage disease caused by the
deficiency of acid alpha-glucosidase (GAA), leading to glycogen accumulation in muscles. A …

Hypothesis”: The primary risk factor for dementia is aging, as the overwhelming majority of
individuals who have the disease (~ 95%) are 65 years old or older, and the rate of …

In an effort to develop an encapsulated cell-based system to deliver arylsulfatase A (ARSA)
to the central nervous system of metachromatic leukodystrophy (MLD) patients, we …

The objective of this study was to estimate the prevalence of hearing impairment in four
genetically isolated Italian villages (Carlantino, Campora, Gioi-Cardile, and Stoccareddo), 1682 …