Search
Now showing items 1-3 of 3
Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat.
(Massachusetts Medical Society, 2016-08-11)
BACKGROUND:
Fabry's disease, an X-linked disorder of lysosomal α-galactosidase deficiency, leads to substrate accumulation in multiple organs. Migalastat, an oral pharmacologic chaperone, stabilizes specific mutant forms ...
Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients.
(John Wiley & Sons, Inc. All rights reserved, 2016-03-01)
BACKGROUND:
The encephalomyopathic mtDNA depletion syndrome with methylmalonic aciduria is associated with deficiency of succinate-CoA ligase, caused by mutations in SUCLA2 or SUCLG1. We report here 25 new patients with ...
Hematopoietic Stem-Cell Gene Therapy for Cerebral Adrenoleukodystrophy.
(Massachusetts Medical Society, 2017-10-26)
BACKGROUND:
In X-linked adrenoleukodystrophy, mutations in ABCD1 lead to loss of function of the ALD protein. Cerebral adrenoleukodystrophy is characterized by demyelination and neurodegeneration. Disease progression, ...