Results 51 to 60 of about 14,971 (151)
Genetics of X-Linked Adrenoleukodystrophy
, 2002 An 8.5-year-old girl with cerebral X-linked adrenoleukodystrophy is reported from Ben-Gurion University, Beer Sheva, Israel, and Johns Hopkins University, Baltimore ...
J Gordon Millichap
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International Journal of Neonatal ScreeningX-linked adrenoleukodystrophy (ALD) is a rare metabolic disorder. Symptoms range from cerebral demyelination (cALD) to adrenal insufficiency and slowly progressive myeloneuropathy.
Cecilie S. Videbæk +3 more
doaj +1 more source
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.
Hongge Wang +13 more
doaj +1 more source
Isolated Corticospinal Tract Lesions as an Early Manifestation of Adrenoleukodystrophy in Children
Annals of the Child Neurology Society, Volume 4, Issue 2, Page 117-124, June 2026.ABSTRACT Purpose X‐linked adrenoleukodystrophy (ALD) encompasses a wide range of neurological manifestations, classically described as distinct phenotypes including childhood cerebral adrenoleukodystrophy and adult‐onset adrenomyeloneuropathy (AMN).
Elle Winter +7 more
wiley +1 more source
Segmental Optic Atrophy with Adrenoleukodystrophy ABCD1 Gene Variant
, 2023 We report a case of Adrenoleukodystrophy ABCD1 gene variant presenting with segmental optic atrophy in a 34-year-old male. The patient presented to our Neuro-Ophthalmology clinic with complaints of defective vision in both eyes, mild headache and ...
Khishigdelger Erdenechuluun +3 more
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Clinical phenotype and genetic characteristics of five patients with adrenomyeloneuropathy
Chinese Journal of Contemporary Neurology and Neurosurgery, 2022 Objective To report 5 patients with adrenomyeloneuropathy (AMN), and to summarize the clinical phenotype and gene mutation characteristics in combination with literature and mutation database.
LIU Xiao⁃li +3 more
doaj +1 more source
Peroxisomal Lipid Metabolism as a Therapeutic Target in Leukemia
Molecular Nutrition &Food Research, Volume 70, Issue 11, 15 June 2026.Peroxisomes are emerging as key regulators of lipid metabolism in leukemia. Enhanced metabolism of very‐long‐chain fatty acids (VLCFAs) supports leukemia cell survival, redox homeostasis, and therapeutic resistance. Pharmacologic disruption of peroxisomal fatty acid oxidation causes VLCFA accumulation, oxidative stress, and mitochondrial dysfunction ...
Ekaterina N. Parfenova +1 more
wiley +1 more source
Nerve Ultrasound Detects Peripheral Nerve Enlargement in Cerebrotendinous Xanthomatosis
Muscle &Nerve, Volume 73, Issue 6, Page 1082-1088, June 2026.ABSTRACT Introduction/Aims Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder caused by variants in the CYP27A1 gene, resulting in cholestanol accumulation in various tissues, including peripheral nerves. Polyneuropathy is common but often under‐recognized in CTX.
Antonio Edvan Camelo‐Filho +8 more
wiley +1 more source
Molecular Probes for Tracking Reactive Oxygen Species at the Organelle Interface
Analysis &Sensing, Volume 6, Issue 3, May 2026.This perspective charts the frontier of visualizing compartmentalized redox signaling across mitochondria, the ER, lysosomes, and the underexplored peroxisome. It discusses evolving molecular probe designs, the integration of multiplexed imaging, and the specific engineering challenges for tracking ROS at organelle interfaces.
Daniela Ceballos‐Ávila +1 more
wiley +1 more source