Results 151 to 160 of about 7,234,150 (180)
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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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1995
X-linked adrenoleukodystrophy (XALD) is a genetically determined disorder that mainly involves the adrenal cortex and white matter structures of the CNS. Inheritance is X-linked recessive. The disease has a wide phenotypic variability. The childhood cerebral form is the most frequent and accounts for about half of the cases. The second most common form
Marjo S. van der Knaap, Jacob Valk
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X-linked adrenoleukodystrophy (XALD) is a genetically determined disorder that mainly involves the adrenal cortex and white matter structures of the CNS. Inheritance is X-linked recessive. The disease has a wide phenotypic variability. The childhood cerebral form is the most frequent and accounts for about half of the cases. The second most common form
Marjo S. van der Knaap, Jacob Valk
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2018
An 8-year-old boy presented with complaints of blurred vision in both eyes for 1 month. Recent frequent falling and inattention in the classroom were cited. Hearing impairment and frequent water drinking were also noted by his parents. The patient’s family history included the fact that he was adopted as a 10-day-old and his biological parents were ...
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An 8-year-old boy presented with complaints of blurred vision in both eyes for 1 month. Recent frequent falling and inattention in the classroom were cited. Hearing impairment and frequent water drinking were also noted by his parents. The patient’s family history included the fact that he was adopted as a 10-day-old and his biological parents were ...
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2017
X-linked adrenoleukodystrophy (X-ALD) is a maternally inherited peroxisomal disorder caused by single-gene mutations in ABCD1 that causes a broad spectrum of disease phenotypes in male patients and in female carriers. The most severe form, childhood cerebral adrenoleukodystrophy (CCALD), presents as an inflammatory demyelinating process with rapid ...
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X-linked adrenoleukodystrophy (X-ALD) is a maternally inherited peroxisomal disorder caused by single-gene mutations in ABCD1 that causes a broad spectrum of disease phenotypes in male patients and in female carriers. The most severe form, childhood cerebral adrenoleukodystrophy (CCALD), presents as an inflammatory demyelinating process with rapid ...
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[X-linked adrenoleukodystrophy].
Annales d'endocrinologie, 2008X-linked adrenoleukodystrophy (ALD) is a severe neurodegenerative disorder. ALD is characterized by progressive demyelination within the central and peripheral nervous system, adrenal insufficiency (Addison's disease) and accumulation of very-long-chain fatty acids (VLCFA) in plasma, fibroblasts and tissues.
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