Results 31 to 40 of about 7,234,150 (180)
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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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
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ABCD1 gene mutation in an Italian family with X-linkedadrenoleukodystrophy: case series
Endocrinology, Diabetes & Metabolism Case Reports, 2021 Adrenoleukodystrophy is a peroxisomal X-linked recessive disease caused by mutations in the ABCD1 gene, located on the X-chromosome (Xq28). Gene mutations in patient with adrenoleukodystrophy induce metabolic alterations characterized by impaired ...
Angelika Mohn +6 more
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Antioxidant Response in Human X-Linked Adrenoleukodystrophy Fibroblasts
Antioxidants, 2022 Redox imbalance, mitochondrial dysfunction, and inflammation play a major role in the pathophysiology of X-linked adrenoleukodystrophy (X-ALD), an inherited neurodegenerative disease caused by mutations in the ABCD1 gene, encoding the protein responsible
Sara Petrillo +7 more
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X-LINKED ADRENOLEUKODYSTROPHY IN BRAZIL: A CASE SERIES
, 2019 Objective: 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 (6878945) +4 more
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Diagnostic imaging and biochemical findings of rare inherited X-linked adrenoleukodystrophy in a child [PDF]
Srpski Arhiv za Celokupno Lekarstvo, 2017 Introduction. Adrenoleukodystrophy (ALD) is a rare genetic disease, caused by mutations in ABCD1 gene located on the X chromosome (X-ALD), underdiagnosed worldwide. Case Outline.
Serapinas Danielius +6 more
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Dystonic opisthotonus: A rare phenotype of adrenoleukodystrophy
Annals of Movement Disorders, 2019 X-linked adrenoleukodystrophy (X-ALD) is a pan-ethnic disorder and affects approximately 1:20,000 males (Moser HW, Mahmood A, Raymond GV. X-linked adrenoleukodystrophy.
Sindhu D Mallikarjuna +3 more
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Therapy of X-linked adrenoleukodystrophy [PDF]
Neurotherapeutics, 2006 Current therapies for X-linked adrenoleukodystrophy (X-ALD) include replacement therapy with adrenal steroids, which is mandatory for all patients with impaired adrenal function but does not alter neurological progression significantly; dietary therapy with "Lorenzo's Oil," which appears to have a preventive effect in asymptomatic boys whose brain MRI ...
openaire +2 more sources
Anaesthesia for a child with adrenoleukodystrophy: A case report and review of the literature
Indian Journal of Anaesthesia, 2014 We present a 9-year-old boy with X-linked cerebral adrenoleukodystrophy (X-linked ALD) and previous umbilical cord transplant who required general anaesthesia.
Sien Hui Tan, Vivienne HY Ng
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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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