Results 101 to 110 of about 1,386 (146)
Stem cell-transplantation therapy for adrenoleukodystrophy: current perspectives
, 2017 Weston Miller Department of Pediatrics, Division of Blood and Marrow Transplantation, University of Minnesota, Minneapolis, MN, USA Abstract: Adrenoleukodystrophy (ALD) is a rare, X-linked peroxisomal disorder of impaired very long-chain fatty-acid ...
Miller W
core
Imaging in X-Linked Adrenoleukodystrophy
Neuropediatrics, 2021 AbstractMagnetic 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 +3 more sources
X-linked adrenoleukodystrophy: The Australasian experience
American Journal of Medical Genetics, 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 ...
Kirk, E. +4 more
openaire +4 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.
Marc Engelen +2 more
exaly +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 +2 more
exaly +2 more sources