Works matching Adrenoleukodystrophy
Results: 915
Adrenoleukodystrophy: subcellular localization and degradation of adrenoleukodystrophy protein (ALDP/ABCD1) with naturally occurring missense mutations.
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- Journal of Neurochemistry, 2007, v. 101, n. 6, p. 1632, doi. 10.1111/j.1471-4159.2007.04457.x
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- Article
Linking mutated primary structure of adrenoleukodystrophy protein with X-linked adrenoleukodystrophy.
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- Computer Methods in Biomechanics & Biomedical Engineering, 2010, v. 13, n. 3, p. 403, doi. 10.1080/10255840903279974
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- Article
ABCD1 deletion-induced mitochondrial dysfunction is corrected by SAHA: implication for adrenoleukodystrophy.
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- Journal of Neurochemistry, 2015, v. 133, n. 3, p. 380, doi. 10.1111/jnc.12992
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- Article
Anaesthesia for a child with adrenoleukodystrophy: A case report and review of the literature.
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- 2014
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- Case Study
Molecular Characterization of X-Linked Adrenoleukodystrophy in a Tunisian Family: Identification of a Novel Missense Mutation in the ABCD1 Gene.
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- Neurodegenerative Diseases, 2013, v. 12, n. 4, p. 207, doi. 10.1159/000346680
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- Article
Adrenoleukodystrophy: Magnetic Resonance and diffusion weighted imaging findings.
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- Cumhuriyet Medical Journal, 2018, v. 40, n. 3, p. 308, doi. 10.7197/223.vi.417858
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- Article
The experiences of parents of children diagnosed with cerebral adrenoleukodystrophy.
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- Child: Care, Health & Development, 2024, v. 50, n. 1, p. 1, doi. 10.1111/cch.13184
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- Article
Baicalein 5,6,7-trimethyl ether, a flavonoid derivative, stimulates fatty acid β-oxidation in skin fibroblasts of X-linked adrenoleukodystrophy
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- FEBS Letters, 2005, v. 579, n. 2, p. 409, doi. 10.1016/j.febslet.2004.11.102
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Anesthetic management of an adult patient with childhood x-linked adrenoleukodystrophy.
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- Anaesthesia, Pain & Intensive Care, 2019, v. 23, n. 1, p. 78
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- Article
Evaluation of Neurofilament Light Chain as a Biomarker of Neurodegeneration in X-Linked Childhood Cerebral Adrenoleukodystrophy.
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- Cells (2073-4409), 2022, v. 11, n. 5, p. 913, doi. 10.3390/cells11050913
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- Article
Probing substrate-induced conformational alterations in adrenoleukodystrophy protein by proteolysis.
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- Journal of Human Genetics, 2005, v. 50, n. 2, p. 99, doi. 10.1007/s10038-004-0226-4
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- Article
Childhood adrenoleukodystrophy -- Classic and variant -- Review of clinical manifestations and magnetic resonance imaging.
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- Journal of Pediatric Neurosciences, 2013, v. 8, n. 3, p. 192, doi. 10.4103/1817-1745.123661
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- Article
Interval between contrast administration and T1-weighted MRI for cerebral adrenoleukodystrophy: a single-case observation.
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- European Radiology Experimental, 2023, v. 7, n. 1, p. 1, doi. 10.1186/s41747-023-00373-6
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- Article
Adult-onset adrenoleukodystrophy of the olivopontocerebellar form and lacking cerebral involvement.
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- Neurology & Clinical Neuroscience, 2016, v. 4, n. 5, p. 186, doi. 10.1111/ncn3.12067
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- Article
Childhood Cerebral Adrenoleukodystrophy: Case Report and Literature Review Advocating for Newborn Screening.
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- Degenerative Neurological & Neuromuscular Disease, 2024, v. 14, p. 75, doi. 10.2147/DNND.S442985
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- Article
Diffusion-weighted Magnetic Resonance Imaging in the Early Diagnosis of Neonatal Adrenoleukodystrophy.
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- 2011
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- Case Study
Leriglitazone halts disease progression in adult patients with early cerebral adrenoleukodystrophy.
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- Brain: A Journal of Neurology, 2024, v. 147, n. 10, p. 3344, doi. 10.1093/brain/awae169
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Progression of myelopathy in males with adrenoleukodystrophy: towards clinical trial readiness.
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- 2019
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- journal article
Impaired plasticity of macrophages in X-linked adrenoleukodystrophy.
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- 2018
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- journal article
Long-term outcomes of allogeneic haematopoietic stem cell transplantation for adult cerebral X-linked adrenoleukodystrophy.
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- 2017
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- journal article
Loes Score: Clinical and Radiological Profile of 22 Patients of X-Linked Adrenoleukodystrophy: Case Series from a Single Center.
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- Indian Journal of Radiology & Imaging, 2021, v. 31, n. 2, p. 383, doi. 10.1055/s-0041-1734366
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- Article
Juvenile onset globoid cell leukodystrophy masquerading as XL-adrenoleukodystrophy.
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- Journal of Paediatrics & Child Health, 2008, v. 44, n. 7/8, p. 459, doi. 10.1111/j.1440-1754.2008.01340.x
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- Article
Two Single Nucleotide Deletions in the ABCD1 Gene Causing Distinct Phenotypes of X-Linked Adrenoleukodystrophy.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 6, p. 5957, doi. 10.3390/ijms24065957
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- Article
Glycosphingolipids with Very Long-Chain Fatty Acids Accumulate in Fibroblasts from Adrenoleukodystrophy Patients.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 16, p. 8645, doi. 10.3390/ijms22168645
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- Article
Heat shock protein expression in cerebral X-linked adrenoleukodystrophy reveals astrocyte stress prior to myelin loss.
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- Neuropathology & Applied Neurobiology, 2018, v. 44, n. 4, p. 363, doi. 10.1111/nan.12399
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- Article
Novel ABCD1 Gene Mutation in a Korean Patient with X-Linked Adrenoleukodystrophy Presenting with Addison's Disease.
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- Endocrinology & Metabolism, 2020, v. 35, n. 1, p. 188, doi. 10.3803/EnM.2020.35.1.188
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- Article
Easily misdiagnosed X-linked adrenoleukodystrophy.
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- Italian Journal of Pediatrics, 2024, v. 50, n. 1, p. 1, doi. 10.1186/s13052-024-01669-y
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A novel mutation in the ABCD1 gene of a Moroccan patient with X-linked adrenoleukodystrophy: case report.
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- 2015
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- journal article
Optic nerve demyelination as the presenting feature of adrenoleukodystrophy in a child.
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- 2022
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- journal article
Anesthetic management of pediatric patients diagnosed with X‐linked adrenoleukodystrophy: A single‐center experience.
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- Pediatric Anesthesia, 2020, v. 30, n. 2, p. 124, doi. 10.1111/pan.13786
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- Article
Newborn Screen for X-Linked Adrenoleukodystrophy Using Flow Injection Tandem Mass Spectrometry in Negative Ion Mode.
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- International Journal of Neonatal Screening (IJNS), 2022, v. 8, n. 2, p. 27, doi. 10.3390/ijns8020027
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Newborn Screening for X-Linked Adrenoleukodystrophy: The Initial Illinois Experience.
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- International Journal of Neonatal Screening (IJNS), 2022, v. 8, n. 1, p. 6, doi. 10.3390/ijns8010006
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Gait Difficulties and Postural Instability in Adrenoleukodystrophy.
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- Frontiers in Neurology, 2021, v. 12, p. 1, doi. 10.3389/fneur.2021.684102
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Adrenoleukodystrophy: New Approaches to a Neurodegenerative Disease.
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- JAMA: Journal of the American Medical Association, 2005, v. 294, n. 24, p. 3131, doi. 10.1001/jama.294.24.3131
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Autonomic dysfunction in a patient with X-linked adrenoleukodystrophy.
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- International Journal of Neuroscience, 2018, v. 128, n. 8, p. 783, doi. 10.1080/00207454.2017.1405953
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Adrenoleukodystrophy manifesting as spinocerebellar degeneration.
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- Neurology India, 2006, v. 54, n. 2, p. 195
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- Article
Identification of two de novo mutations in Chinese patients with X-linked adrenoleukodystrophy.
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- Clinical Chemistry & Laboratory Medicine, 2008, v. 46, n. 12, p. 1702, doi. 10.1515/CCLM.2008.331
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The Genetically Modified Polysialylated Form of Neural Cell Adhesion Molecule-Positive Cells for Potential Treatment of X-Linked Adrenoleukodystrophy.
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- Yonsei Medical Journal, 2013, v. 54, n. 1, p. 246, doi. 10.3349/ymj.2013.54.1.246
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- Article
Mild phenotype in an adult male with X-linked adrenoleukodystrophy - case report.
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- Clinical Case Reports, 2016, v. 4, n. 2, p. 177, doi. 10.1002/ccr3.434
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- Article
X-linked adrenoleukodystrophy and primary adrenal insufficiency.
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- Frontiers in Endocrinology, 2023, p. 1, doi. 10.3389/fendo.2023.1309053
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- Article
X-LINKED ADRENOLEUKODYSTROPHY IN BRAZIL: A CASE SERIES.
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- Revista Paulista de Pediatria, 2019, v. 37, n. 4, p. 465, doi. 10.1590/1984-0462/;2019;37;4;00015
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- Article
Childhood Cerebral X-Linked Adrenoleukodystrophy More Than 5 Years After Hematopoietic Cell Transplantation: The First Case From Serbia and Southeastern Europe.
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- 2010
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- Case Study
Early Signs of Visual Perception and Evoked Potentials in Radiologically Asymptomatic Boys With X-linked Adrenoleukodystrophy.
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- Journal of Child Neurology, 2009, v. 24, n. 8, p. 927, doi. 10.1177/0883073808331354
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- Article
Three Novel Variants in X-linked Adrenoleukodystrophy.
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- Journal of Child Neurology, 2009, v. 24, n. 7, p. 857, doi. 10.1177/0883073808330764
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- Article
Clinical, biochemical, neuroimaging and molecular findings of X-linked Adrenoleukodystrophy patients in South China.
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- Metabolic Brain Disease, 2015, v. 30, n. 6, p. 1439, doi. 10.1007/s11011-015-9717-6
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X-linked adrenoleukodystrophy in women: a cross-sectional cohort study.
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- Brain: A Journal of Neurology, 2014, v. 137, n. 3, p. 693, doi. 10.1093/brain/awt361
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- Article
Pioglitazone halts axonal degeneration in a mouse model of X-linked adrenoleukodystrophy.
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- Brain: A Journal of Neurology, 2013, v. 136, n. 8, p. 2432, doi. 10.1093/brain/awt143
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Oxidative stress regulates the ubiquitin–proteasome system and immunoproteasome functioning in a mouse model of X-adrenoleukodystrophy.
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- Brain: A Journal of Neurology, 2013, v. 136, n. 3, p. 891, doi. 10.1093/brain/aws370
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- Article
Oxidative stress modulates mitochondrial failure and cyclophilin D function in X-linked adrenoleukodystrophy.
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- Brain: A Journal of Neurology, 2012, v. 135, n. 12, p. 3584
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A case of X-Linked adrenoleukodystrophy caused by a novel mutation with singular clinical manifestation: unilateral lower limb weakness.
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- Neurological Sciences, 2025, v. 46, n. 1, p. 473, doi. 10.1007/s10072-024-07828-7
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- Article