Results 141 to 150 of about 7,234,150 (180)
X-linked adrenoleukodystrophy: The Australasian experience
American Journal of Medical Genetics, Part A, 1998 Our objective was to review the Australasian experience of X-linked adrenoleukodystrophy (ALD), to compare the spectrum of disease seen in Australasia with previously published data from elsewhere, and to assess the reliability of carrier testing. Study design was a retrospective review of records collected over a 15-year period, the setting was an ...
Alfred Poulos
exaly +5 more sources
X‐linked adrenoleukodystrophy with olivopontocerebellar atrophy
European Journal of Neurology, 2005 X‐linked adrenoleukodystrophy (X‐ALD) is a rare neurological disorder characterized by adrenal, gonadal and nervous system dysfunction. Patients usually develop spinal cord degeneration with involvement of the cerebral white matter. While a spinocerebellar variant has been described, the selective involvement of cerebellar white matter is very rare. We
Vianello M +5 more
openaire +4 more sources
X-linked adrenoleukodystrophy in women: a cross-sectional cohort study
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 +2 more
exaly +2 more sources
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Imaging in X-Linked Adrenoleukodystrophy
Neuropediatrics, 2021AbstractMagnetic resonance imaging (MRI) is the gold standard for the detection of cerebral lesions in X-linked adrenoleukodystrophy (ALD). ALD is one of the most common peroxisomal disorders and is characterized by a defect in degradation of very long chain fatty acids (VLCFA), resulting in accumulation of VLCFA in plasma and tissues.
Stephanie I W, van de Stadt +4 more
openaire +2 more sources
X-Linked Adrenoleukodystrophy: Pathogenesis and Treatment
Current Neurology and Neuroscience Reports, 2014 X-linked adrenoleukodystrophy (X-ALD) is a puzzling inborn error of metabolism with a strikingly heterogeneous clinical spectrum. All patients have mutations in the ABCD1 gene and accumulate very long chain fatty acids in all tissues.
Marc Engelen, Stephan Kemp
exaly +2 more sources
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 ...
Aubourg, Patrick, Mandel, Jean-Louis
+6 more sources
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 ...
Aubourg, Patrick, Mandel, Jean-Louis
+6 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
openaire +2 more sources
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
openaire +2 more sources