Results 21 to 30 of about 18,427 (209)
International Journal of Neonatal Screening, 2023 Adrenoleukodystrophy (ALD) is caused by pathogenic variants in the ABCD1 gene, encoding for the adrenoleukodystrophy protein (ALDP), leading to defective peroxisomal β-oxidation of very long-chain and branched-chain fatty acids (VLCFA).
Julia Prinzi +6 more
doaj +1 more source
Characterization of the human omega-oxidation pathway for omega-hydroxy-very-long-chain fatty acids [PDF]
, 2008 Very-long-chain fatty acids (VLCFAs) have long been known to be degraded exclusively in peroxisomes via beta-oxidation. A defect in peroxisomal beta-oxidation results in elevated levels of VLCFAs and is associated with the most frequent inherited ...
Dacremont, Georges +4 more
core +2 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
Elevated cerebral spinal fluid biomarkers in children with mucopolysaccharidosis I-H. [PDF]
, 2016 Mucopolysaccharidosis (MPS) type-IH is a lysosomal storage disease that results from mutations in the IDUA gene causing the accumulation of glycosaminoglycans (GAGs).
Dickson, Patricia I +6 more
core +1 more source
A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies [PDF]
, 2014 Leukodystrophies (LD) and genetic leukoencephalopathies (gLE) are disorders that result in white matter abnormalities in the central nervous system (CNS).
Bernard, Geneviève +14 more
core +7 more sources
Peroxisomal dysfunctions cause lysosomal storage and axonal Kv1 channel redistribution in peripheral neuropathy [PDF]
, 2017 Impairment of peripheral nerve function is frequent in neurometabolic diseases, but mechanistically not well understood. Here, we report a novel disease mechanism and the finding that glial lipid metabolism is critical for axon function, independent of ...
Asadollahi, Ebrahim +17 more
core +3 more sources
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
, 2013 Peroxisomes are essential organelles in higher eukaryotes as they play a major role in numerous metabolic pathways and redox homeostasis. Some peroxisomal abnormalities, which are often not compatible with life or normal development, were identified in ...
Geillon, Flore +7 more
core +3 more sources
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
doaj +1 more source