Adrenoleukodystrophy: A Rare Clinical Scenario [PDF]
Indian Journal of Private PsychiatryBackground: Adrenoleukodystrophy is a genetic disorder involving the peroxisomes, that leads to defects in beta-oxidation and collection of very long-chain fatty acids.
Antara Kunwar, Jitendriya Biswal
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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.
Jamie Matteson +5 more
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Inflammation and Immunomodulation in Cerebral X-linked Adrenoleukodystrophy: Review of Pathology and Interventions [PDF]
Journal of Child NeurologyFlorian S Eichler +2 more
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Uptake and metabolism of plasma-derived erucic acid by rat brain
Journal of Lipid Research, 2006 We examined the ability of erucic acid (22:1n-9) to cross the blood-brain barrier (BBB) by infusing [14–14C]22:1n-9 (170 μCi/kg, iv and icv) into awake, male rats. [1-14C]arachidonic acid (20:4n-6) [intravenous (i.v.)] was the positive control. After i.v.
Mikhail Y. Golovko, Eric J. Murphy
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A case of female adrenoleukodystrophy carrier with insidious neurogenic bladder
Journal of General and Family Medicine, 2020 A 65‐year‐old woman with mutation of the ABCD1 gene for adrenoleukodystrophy (ALD) was admitted to our hospital with a urinary tract infection. Abdominal computed tomography showed dilation of the urinary tract.
Koji Obara +3 more
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X-linked adult-onset adrenoleukodystrophy: Psychiatric and neurological manifestations
SAGE Open Medical Case Reports, 2017 Adult-onset adrenoleukodystrophy is a rare x-linked inborn error of metabolism occurring predominantly in males with onset in early 30s. Here, we report a 34-year-old male with first signs of disease in early 20s manifesting as a pure psychiatric ...
Daniah Shamim, Karen Alleyne
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Interactions of very long-chain saturated fatty acids with serum albumin
Journal of Lipid Research, 2002 The remarkable binding properties of serum albumin have been investigated extensively, but little is known about an important class of fatty acids, the very long-chain saturated fatty acids (VLCFA; >18 carbons). Although VLCFA are metabolized efficiently
Ji-Kyung Choi +5 more
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X-LINKED ADRENOLEUKODYSTROPHY IN BRAZIL: A CASE SERIES
Revista Paulista de PediatriaObjective: To describe patients with different phenotypes of X-linked adrenoleukodystrophy: pre-symptomatic, cerebral demyelinating inflammatory adrenoleukodystrophy, adrenomyeloneuropathy and adrenal insufficiency only. Methods: Specific data related
Fernanda Luiza Schumacher Furlan +4 more
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Adrenoleukodystrophy in a Nigerian boy: A case report and review of literature
Nigerian Journal of Paediatrics, 2021 Adrenoleukodystrophy (ALD) is a hereditary, X-linked metabolic disorder with autosomal recessive traits. It arises from mutation in ABCD1 gene on chromosome Xq28.
Akowundu Pauline Karachi +3 more
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Chitotriosidase as a biomarker of cerebral adrenoleukodystrophy
Journal of Neuroinflammation, 2011 Background Adrenoleukodystrophy (ALD) is an X-linked peroxisomal disorder characterized by the abnormal beta-oxidation of very long chain fatty acids (VLCFA).
Orchard Paul J +8 more
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