Results 111 to 120 of about 1,386 (146)
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Annals of the New York Academy of Sciences, 1996
To the Editor: I read with interest the article by Marris et al. [1] on X-linked adrenoleukodystrophy (X-ALD) presenting as pure familial spastic paraparesis (FSP) and made a few comments. In the Introduction, the authors state that pure spastic paraparesis as a manifestation of a genetically determined disorder may be pathologically characterized by ...
P, Aubourg, J L, Mandel
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To the Editor: I read with interest the article by Marris et al. [1] on X-linked adrenoleukodystrophy (X-ALD) presenting as pure familial spastic paraparesis (FSP) and made a few comments. In the Introduction, the authors state that pure spastic paraparesis as a manifestation of a genetically determined disorder may be pathologically characterized by ...
P, Aubourg, J L, Mandel
+5 more sources
Nature Clinical Practice Neurology, 2007
X-linked adrenoleukodystrophy (X-ALD) is caused by a defect in the gene ABCD1, which maps to Xq28 and codes for a peroxisomal membrane protein that is a member of the ATP-binding cassette transporter superfamily. X-ALD is panethnic and affects approximately 1:20,000 males.
Hugo W, Moser +2 more
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X-linked adrenoleukodystrophy (X-ALD) is caused by a defect in the gene ABCD1, which maps to Xq28 and codes for a peroxisomal membrane protein that is a member of the ATP-binding cassette transporter superfamily. X-ALD is panethnic and affects approximately 1:20,000 males.
Hugo W, Moser +2 more
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Neurology, 1993
We report a unique case of a 43-year-old architect with adult-onset adrenoleukodystrophy who presented primarily with intellectual decline and no evidence of adrenal insufficiency. Serial MRIs taken over a number of months demonstrated the evolution of demyelination starting in the frontal white matter then shifting to the occipital white matter and ...
D F, Farrell +4 more
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We report a unique case of a 43-year-old architect with adult-onset adrenoleukodystrophy who presented primarily with intellectual decline and no evidence of adrenal insufficiency. Serial MRIs taken over a number of months demonstrated the evolution of demyelination starting in the frontal white matter then shifting to the occipital white matter and ...
D F, Farrell +4 more
openaire +3 more sources
Lovastatin for X-Linked Adrenoleukodystrophy
New England Journal of Medicine, 1998To the Editor: X-linked adrenoleukodystrophy is an inherited recessive disorder characterized by a defect in peroxisomal β-oxidation of very-long-chain fatty acids (those with more than 22 carbon atoms) and secondary neuroinflammatory damage.1,2 Even though the accumulation of very-long-chain fatty acids in plasma and tissues occurs early, the ...
I, Singh, M, Khan, L, Key, S, Pai
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Progress in X-linked adrenoleukodystrophy
Current Opinion in Neurology, 2004The purpose of this article is to review and evaluate the new information about X-linked adrenoleukodystrophy that has been reported in 2002 and 2003.X-linked adrenoleukodystrophy has two distinct neurological phenotypes: adrenomyeloneuropathy, a non-inflammatory axonopathy mostly in adults, and an intensely inflammatory cerebral myelinopathy mostly in
Hugo, Moser, Prachi, Dubey, Ali, Fatemi
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On the Front of X-Linked Adrenoleukodystrophy
Neurochemical Research, 1999The profound and lasting involvement of Hugo and Ann Moser have allowed to make remarkable progress in adrenoleulodystrophy (ALD) during the last 20 years. Besides their own commitment in ALD, Hugo and Ann have constantly encouraged physicians, biologists and molecular geneticists to undertake clinical and fundamental research in this devastating ...
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DNA diagnosis of X-linked adrenoleukodystrophy
Journal of Inherited Metabolic Disease, 1995SummaryThe X‐linked adrenoleukodystrophy (ALD) gene was identified recently and is predicted to encode a 745‐amino‐acid peroxisomal membrane protein. Strategies have been designed for the search for mutations in the ALD gene in patients. Several mutations have now been found and it seems that many different mutations are responsible for ALD.
Seneca, Sara, Lissens, Willy
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2016
X-linked adrenoleukodystrophy (X-ALD) is the most frequent peroxisomal disorder. Hallmarks are increased levels of plasma very long-chain fatty acids (VLCFA), mutations in the ABCD1 gene, impaired function of ALD-protein and, consequently, decreased import of VLCFA-CoA esters in peroxisomes and VLCFA beta-oxidation.
Björn M. van Geel +2 more
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X-linked adrenoleukodystrophy (X-ALD) is the most frequent peroxisomal disorder. Hallmarks are increased levels of plasma very long-chain fatty acids (VLCFA), mutations in the ABCD1 gene, impaired function of ALD-protein and, consequently, decreased import of VLCFA-CoA esters in peroxisomes and VLCFA beta-oxidation.
Björn M. van Geel +2 more
+5 more sources
The Endocrinologist, 1992
X-linked adrenoleukodystrophy (ALD), char' acterized by the presence of adrenal insufficiency and demyelination, has recently been recognized to be an important cause of primary adrenal insufficiency in males. This disease has a broad clinical expression with four major presentations. The most common phenotypic group is the severe cerebral form of ALD,
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X-linked adrenoleukodystrophy (ALD), char' acterized by the presence of adrenal insufficiency and demyelination, has recently been recognized to be an important cause of primary adrenal insufficiency in males. This disease has a broad clinical expression with four major presentations. The most common phenotypic group is the severe cerebral form of ALD,
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