Results 31 to 40 of about 17,487 (202)
Molecular Genetics and Metabolism Reports, 2022 Background Adrenoleukodystrophy (ALD) is an X-linked peroxisomal disorder caused by variants in the ABCD1 gene and can lead to Addison disease, childhood cerebral ALD, or adrenomyeloneuropathy.
Hui-An Chen +6 more
semanticscholar +1 more source
The Role of Oxidative Stress and Inflammation in X-Link Adrenoleukodystrophy
Frontiers in Nutrition, 2022 X-linked adrenoleukodystrophy (X-ALD) is an inherited disease caused by a mutation in the ABCD1 gene encoding a peroxisomal transmembrane protein. It is characterized by the accumulation of very-long-chain fatty acids (VLCFAs) in body fluids and tissues,
Jiayu Yu +6 more
semanticscholar +1 more source
, 2011 Abstract This chapter provides pictures and clinical details of Adrenoleukodystrophy, an XLID with variable and progressive vision and hearing loss, spasticity, and neurological deterioration associated with demyelination of the central nervous system and adrenal insufficiency.
Roger E. Stevenson +2 more
+5 more sources
Management of X-linked adrenoleukodystrophy in Morocco: actual situation
BMC Research Notes, 2017 Objectives X-linked adrenoleukodystrophy is a neurodegenerative disorder caused by mutations in the ABCD1 gene. Adrenomyeloneuropathy and childhood cerebral Adrenoleukodystrophy are the most common phenotypes. This paper focuses on a descriptive study of
F. Z. Madani Benjelloun +4 more
doaj +1 more source
Nature Communications, 2021 X-linked adrenoleukodystrophy (X-ALD), the most frequent monogenetic disorder of brain white matter, is highly variable, ranging from slowly progressive adrenomyeloneuropathy (AMN) to life-threatening inflammatory brain demyelination (CALD).
I. Weinhofer +15 more
semanticscholar +1 more source
A clinical case of X-linked adrenoleukodystrophy in a 9-year-old boy
Бюллетень сибирской медицины, 2022 X-linked adrenoleukodystrophy belongs to peroxisomal disorders characterized by combined damage to the nervous system and adrenal glands and often leading to death.
Ya. V. Girsh, K. A. Yakimova
doaj +1 more source
Journal of Medical Case Reports, 2009 Introduction X-linked adrenoleukodystrophy leads to demyelination of the nervous system, adrenal insufficiency, and accumulation of long-chain fatty acids. Most young patients with X-linked adrenoleukodystrophy develop seizures and progressive neurologic
Cakan Nedim +2 more
doaj +1 more source
Novel Gene Mutation in a Korean Patient with X-Linked Adrenoleukodystrophy Presenting with Addison's Disease [PDF]
Endocrinology and Metabolism, 2020 X-linked adrenoleukodystrophy (X-ALD) occurs due to mutations in the ABCD1 gene that encodes the peroxisomal membrane protein peroxisomal transporter ATP-binding cassette sub-family D member 1 (ABCD1).
Yun Kyung Cho +2 more
doaj +1 more source
Adrenoleukodystrophy: Childhood and Adult Forms Compared
Pediatric Neurology Briefs, 1991 Saturated, very long-chain fatty acids in erythrocyte membranes, blood plasma, and mononuclear cells were studied in 4 patients with childhood-adolescent adrenoleukodystrophy, 4 patients with adult adrenoleukodystrophy and 19 normal control subjects in ...
J Gordon Millichap
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Immune response of BV-2 microglial cells is impacted by peroxisomal beta-oxidation
Frontiers in Molecular Neuroscience, 2023 Microglia are crucial for brain homeostasis, and dysfunction of these cells is a key driver in most neurodegenerative diseases, including peroxisomal leukodystrophies.
Ali Tawbeh +20 more
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