Newborn Screening for X-Linked Adrenoleukodystrophy: Past, Present, and Future
International Journal of Neonatal Screening, 2022 Newborn screening for X-linked adrenoleukodystrophy began in New York in 2013. Prior to this start, there was already significant information on the diagnosis and monitoring of asymptomatic individuals.
Ann B. Moser +2 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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Mild phenotype in an adult male with X-linked adrenoleukodystrophy – case report
, 2015 Key Clinical Message X-linked adrenoleukodystrophy may present with a deceptively mild phenotype, even in adult males. Tight collaboration between clinicians, geneticists, biochemists, and other specialists is increasingly required for clarification of ...
Jørum, Ellen +7 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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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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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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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