IN RECENT years staff members of the Neurology Service at the Massachusetts General
Hospital have had the opportunity of examining three adult patients suffering from a slowly …

… Kaplan MD d , Edwin H Kolodny MD e , Pramod Mistry MD f , Gregory Pastores MD e , Barry
E Rosenbloom MD g , C.Ronald Scott MD h , Rebecca S Wappner MD i , Ari Zimran MD j …

OBJECTIVE: To confirm the efficacy and safety of recombinant human α-L-iduronidase (laronidase)
in patients with mucopolysaccharidosis I (MPS I). STUDY DESIGN: This was a …

Background The Gaucher Registry, the largest database of patients with Gaucher disease (GD)
worldwide, was initiated to better delineate the progressive nature of the disorder and …

OBJECTIVE. Our goal was to evaluate the long-term safety and efficacy of recombinant
human α-l-iduronidase (laronidase) in patients with mucopolysaccharidosis I. PATIENTS AND …

Hereditary demyelinating peripheral neuropathies consist of a heterogeneous group of
genetic disorders that includes hereditary neuropathy with liability to pressure palsies (HNPP), …

Background Globoid-cell leukodystrophy is caused by a deficiency of galactocerebrosidase,
which results in progressive central nervous system deterioration. We investigated whether …

Canavan disease is a hereditary leukodystrophy caused by mutations in the aspartoacylase
gene (ASPA), leading to loss of enzyme activity and increased concentrations of the …

Human bone marrow contains mesenchymal stem cells (MSCs) that can differentiate into
various cells of mesenchymal origin. We developed an efficient method of isolating and culture …

Krabbe disease is a rare inherited neurologic disorder affecting the central and peripheral
nervous systems. The disease has four phenotypes: early infantile, later onset, adolescent, …