Results 11 to 20 of about 19,093 (232)
Pediatric Neurology Briefs, 1989 The biochemical and clinical efficacy of dietary erucic acid (C22:1) therapy for X-l inked adrenoleukodystrophy (ALD) was investigated at the Departments of Pediatrics, Human Genetics, Neurology, Medical College of Virginia, Virginia Commonwealth ...
J Gordon Millichap
doaj +5 more sources
Medicinski Glasnik Specijalne Bolnice za Bolesti Štitaste Žlezde i Bolesti Metabolizma "Zlatibor", 2016 Introduction: Adrenoleukodystrophy (ALD) is a disease characterized by the accumulation of very long chain fatty acids in tissues throughout the body. The most severely affected tissues are the myelin in the central nervous system, the adrenal cortex and
Nišić Tatjana +9 more
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Adrenoleukodystrophy Newborn Screening in California Since 2016: Programmatic Outcomes and Follow-Up
International Journal of Neonatal Screening, 2021 X-linked adrenoleukodystrophy (ALD) is a recent addition to the Recommended Uniform Screening Panel, prompting many states to begin screening newborns for the disorder.
Hao Tang +2 more
exaly +4 more sources
Evidence of Iron Accumulation in Cerebral Adrenoleukodystrophy: A Potential Novel Disease Mechanism [PDF]
Annals of Clinical and Translational NeurologyIn this first application of Quantitative Susceptibility Mapping Source Separation to cerebral adrenoleukodystrophy, we uncovered alterations in iron and myelin within lesions and normal appearing white matter. As validation, we demonstrate abnormal iron
Christina L. Nemeth +8 more
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Cells, 2022 Cerebral adrenoleukodystrophy (CALD) is a devastating, demyelinating neuroinflammatory manifestation found in up to 40% of young males with an inherited mutation in ABCD1, the causative gene in adrenoleukodystrophy.
Ashish Gupta, Troy Lund, Paul Orchard
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Newborn Screening for X-Linked Adrenoleukodystrophy: Review of Data and Outcomes in Pennsylvania
International Journal of Neonatal Screening, 2022 X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder. It results from pathogenic variants in ABCD1, which encodes the peroxisomal very-long-chain fatty acid transporter, causing a spectrum of neurodegenerative phenotypes.
Rebecca Ahrens-Nicklas +2 more
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A Case of Adrenoleukodystrophy Presenting as Progressive Cerebellar Dysfunction [PDF]
Journal of Movement Disorders, 2009 X-linked adrenoleukodystrophy (X-ALD) is a hereditary neurological disorder affecting the nervous system and adrenal cortex. The phenotype of X-ALD ranges from the rapidly progressive cerebral form to milder adrenomyeloneuropathy.
Seunguk Jung +4 more
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Newborn Screening for X-Linked Adrenoleukodystrophy: The Initial Illinois Experience
International Journal of Neonatal Screening, 2022 X-linked adrenoleukodystrophy (X-ALD) is a genetic neurodegenerative disorder with an approximate incidence of 1 in 14,700 births. Both males and females are affected.
Burton Barbara K
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Clinically Relevant Outcome Measures in Women With Adrenoleukodystrophy [PDF]
Annals of Clinical and Translational NeurologyAdrenoleukodystrophy is a rare inherited peroxisomal disease caused by pathogenic variants in the ABCD1 gene located on the X chromosome. Although the most severe central nervous system and adrenal complications typically affect only men with ...
Chenwei Yan +3 more
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Cells, 2022 The progressive neurometabolic disorder X-linked adrenoleukodystrophy (ALD) is caused by pathogenic variants in the ABCD1 gene, which encodes the peroxisomal ATP-binding transporter for very-long-chain fatty acids.
Eric J. Mallack +3 more
doaj +2 more sources