Results 191 to 200 of about 19,093 (232)

Twenty years of misdiagnosis of X-linked adrenoleukodystrophy: a case report. [PDF]

Am J Transl Res
Xia D, Fu X, Meng Y, Yang C, Wang W, Wang Z.   +5 more
europepmc   +1 more source

Correction to "Screening for Life: Perspectives From Adult Metabolic Specialists on Newborn Screening for Inherited Metabolic Diseases". [PDF]

J Inherit Metab Dis
europepmc   +1 more source

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Long-Term Follow-Up of Hematopoietic Stem-Cell Gene Therapy for Cerebral Adrenoleukodystrophy

Human Gene Therapy, 2021
In 2009, cerebral adrenoleukodystrophy (c-ALD) became the first brain disease to be treated with lentiviral (LV)-based hematopoietic stem cell gene therapy with the ABCD1 gene in four boys (P1–P4) who had demyelinating lesions expected to be lethal in ...
, Pierre Bougneres, Catherine Adamsbaum   +2 more
exaly   +2 more sources

Adrenoleukodystrophy

X-linked adrenoleukodystrophy (ALD) is a peroxisomal disorder caused by mutations in the ABCD1 gene and characterized by impaired very long-chain fatty acid beta-oxidation. Clinically, male patients develop adrenal failure and progressive myelopathy in adulthood, although the age of onset and rate of progression are highly variable. In addition, 40% of
Weiss Jeffrey N
exaly   +6 more sources

Hematopoietic Stem-Cell Gene Therapy for Cerebral Adrenoleukodystrophy [PDF]

New England Journal of Medicine, 2017
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.
F. Eichler, C. Duncan, P. Musolino, P. Orchard, S. D. De Oliveira, A. Thrasher, M. Armant, C. Dansereau, T. Lund, Weston P. Miller, G. Raymond, R. Sankar, Ami J. Shah, C. Sevin, B. Gaspar, P. Gissen, H. Amartino, D. Bratkovic, N. Smith, A. Paker, E. Shamir, T. O'Meara, D. Davidson, P. Aubourg, David A. Williams   +24 more
semanticscholar   +3 more sources

Adrenoleukodystrophy in a chinese boy [PDF]

Brain and Development, 1992
We report the first Chinese boy with adrenoleukodystrophy (ALD) who presented with hyperpigmentation, behavioral change and demyelination shown in magnetic resonance imaging of the brain. ALD was confirmed by the elevation of very long chain fatty acid in the serum and biochemical evidence of adrenal insufficiency.
Wong, V
openaire   +4 more sources

Mirror expression of adrenoleukodystrophy and adrenoleukodystrophy related genes in mouse tissues and human cell lines [PDF]

European Journal of Cell Biology, 1998
International audienceThe adrenoleukodystrophy and adrenoleukodystrophy related proteins belong to a new family of half ATP-binding cassette transporters which are localized within the peroxisomal membrane and whose functions are still unknown.
Nathalie Troffer-Charlier, J L Mandel, Patrick Aubourg   +2 more
exaly   +2 more sources

Retroviral-mediated adrenoleukodystrophy-related gene transfer corrects very long chain fatty acid metabolism in adrenoleukodystrophy fibroblasts: implications for therapy [PDF]

FEBS Letters, 1999
X-linked adrenoleukodystrophy is a demyelinating disorder of the central nervous system with an impaired very long chain fatty acid metabolism. The adrenoleukodystrophy gene encodes a peroxisomal membrane protein that is part of a family of related ATP ...
Nathalie Cartier, Patrick Aubourg
exaly   +2 more sources

X-linked adrenoleukodystrophy in women: a cross-sectional cohort study [PDF]

Brain, 2014
X-linked adrenoleukodystrophy is the most common peroxisomal disorder. The disease is caused by mutations in the ABCD1 gene that encodes the peroxisomal transporter of very long-chain fatty acids.
Mathieu Barbier, Marc Engelen, Stephan Kemp   +2 more
exaly   +2 more sources