Neuropsychological assessment is essential in providing documentation of the untreated
natural history of storage diseases associated with dementia and quantifying the …

For the past two decades, hematopoietic cell transplantation (HCT) has been used as
effective therapy for selected inherited metabolic diseases (IMD) including Hurler (MPS IH) …

Cerebral X-linked adrenoleukodystrophy (X-ALD) is a disorder of very-long-chain fatty acid
metabolism, adrenal insufficiency, and cerebral demyelination. Death occurs within 2 to 5 …

Background The childhood-onset cerebral form of X-linked adrenoleukodystrophy, a
demyelinating disorder of the central nervous system, leads to a vegetative state and death …

Over 400 patients with lysosomal and peroxisomal storage diseases have received
hematopoietic stem cell transplantation from normal donors. Without treatment, all of these …

Treatment and potential cure of lysosomal and peroxisomal diseases, heretofore considered
fatal, has become a reality during the past decade. Bone marrow transplantation,(BMT), has …

The secretary of the US Department of Health and Human Services in February 2016
recommended that X-linked adrenoleukodystrophy (X-ALD) be added to the recommended …

Our objective was to study the phenotype evolution of X‐linked adrenoleukodystrophy (X‐
ALD) and the relation between axonal degeneration and cerebral demyelination. Although …

As more functional redundancy in mammalian cells is discovered, enhanced expression of
genes involved in alternative pathways may become an effective form of gene therapy. X …

X linked adrenoleukodystrophy (X-ALD) is an inherited disorder of peroxisomal metabolism,
biochemically characterised by accumulation of saturated very long chain fatty acids …