Works matching DE "ADRENOLEUKODYSTROPHY"
Results: 452
Childhood cerebral X-linked adrenoleukodystrophy with atypical neuroimaging abnormalities and a novel mutation.
- Published in:
- 2018
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- Publication type:
- Case Study
Adrenoleukodystrophy initially presenting with symptoms of dementia.
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- Psychogeriatrics, 2007, v. 7, n. 4, p. 163, doi. 10.1111/j.1479-8301.2007.00195.x
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- Article
Activating cannabinoid receptor 2 preserves axonal health through GSK-3β/NRF2 axis in adrenoleukodystrophy.
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- Acta Neuropathologica, 2022, v. 144, n. 2, p. 241, doi. 10.1007/s00401-022-02451-2
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- Article
Autophagy induction halts axonal degeneration in a mouse model of X-adrenoleukodystrophy.
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- Acta Neuropathologica, 2015, v. 129, n. 3, p. 399, doi. 10.1007/s00401-014-1378-8
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- Article
The role of microglia in human disease: therapeutic tool or target?
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- Acta Neuropathologica, 2014, v. 128, n. 3, p. 363, doi. 10.1007/s00401-014-1330-y
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- Article
Gene therapy: Primed for take-off.
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- Nature, 2013, v. 500, n. 7462, p. 280, doi. 10.1038/500280a
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- Article
25-Hydroxycholesterol as a Signaling Molecule of the Nervous System.
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- Biochemistry (00062979), 2022, v. 87, n. 6, p. 524, doi. 10.1134/S0006297922060049
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- Article
FUNCTIONAL CHARACTERIZATION OF THE ADRENOLEUKODYSTROPHY PROTEIN (ALDP) AND DISEASE PATHOGENESIS.
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- Endocrine Research, 2002, v. 28, n. 4, p. 741, doi. 10.1081/ERC-120016999
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- Article
A case of adrenoleukodystrophy presenting with manic symptoms in a patient on steroids for Addison's disease.
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- Indian Journal of Psychiatry, 2016, v. 58, n. 4, p. 467, doi. 10.4103/0019-5545.196705
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- Publication type:
- Article
X-linked adrenoleukodystrophy presenting as attention deficit hyperactivity disorder.
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- Indian Journal of Psychiatry, 2015, v. 57, n. 2, p. 208, doi. 10.4103/0019-5545.158198
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- Article
Voiding dysfunction in a patient with adolescent adrenoleukodystrophy.
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- International Journal of Urology, 2001, v. 8, n. 3, p. 144, doi. 10.1046/j.1442-2042.2001.00271.x
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- Publication type:
- Article
Alcohol-Associated Liver Disease Outcomes: Critical Mechanisms of Liver Injury Progression.
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- Biomolecules (2218-273X), 2024, v. 14, n. 4, p. 404, doi. 10.3390/biom14040404
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- Publication type:
- Article
Efficacy of HDAC Inhibitors in Driving Peroxisomal β-Oxidation and Immune Responses in Human Macrophages: Implications for Neuroinflammatory Disorders.
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- Biomolecules (2218-273X), 2023, v. 13, n. 12, p. 1696, doi. 10.3390/biom13121696
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- Article
ABCD1 Transporter Deficiency Results in Altered Cholesterol Homeostasis.
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- Biomolecules (2218-273X), 2023, v. 13, n. 9, p. 1333, doi. 10.3390/biom13091333
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- Publication type:
- Article
New treatment of free-radical scavenger in adrenoleukodystrophy.
- Published in:
- 2011
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- Publication type:
- Case Study
X-Linked adrenoleukodystrophy in a 7-year-old boy presenting with psychiatric symptoms.
- Published in:
- 2011
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- Publication type:
- Letter
Clinical Manifest X-Linked Recessive Adrenoleukodystrophy in a Female.
- Published in:
- Case Reports in Neurological Medicine, 2013, p. 1, doi. 10.1155/2013/491790
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- Article
Nephrotic syndrome and adrenoleukodystrophy in a 5-year-old boy.
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- Pediatric Nephrology, 2024, v. 39, n. 12, p. 3463, doi. 10.1007/s00467-024-06454-x
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- Article
Anesthesia in a child with adrenoleukodystrophy.
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- Korean Journal of Anesthesiology, 2014, v. 67, p. S106, doi. 10.4097/kjae.2014.67.S.S106
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- Article
Paediatric Palliative Care: The Challenging Dimensions.
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- Grief Matters: The Australian Journal of Grief & Bereavement, 2012, v. 15, n. 2, p. 28
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- Publication type:
- Article
Hematopoietic stem-cell gene therapy is associated with restored white matter microvascular function in cerebral adrenoleukodystrophy.
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- Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-37262-w
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- Article
Newborn Screening for X-Linked Adrenoleukodystrophy (X-ALD): Biochemical, Molecular, and Clinical Characteristics of Other Genetic Conditions.
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- Genes, 2024, v. 15, n. 7, p. 838, doi. 10.3390/genes15070838
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- Article
Biochemical Studies in Fibroblasts to Interpret Variants of Unknown Significance in the ABCD1 Gene.
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- Genes, 2021, v. 12, n. 12, p. 1930, doi. 10.3390/genes12121930
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- Publication type:
- Article
A Large Family with p.Arg554His Mutation in ABCD1 : Clinical Features and Genotype/Phenotype Correlation in Female Carriers.
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- Genes, 2021, v. 12, n. 5, p. 775, doi. 10.3390/genes12050775
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- Article
NGS-Based Diagnosis of Treatable Neurogenetic Disorders in Adults: Opportunities and Challenges.
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- Genes, 2021, v. 12, n. 5, p. 695, doi. 10.3390/genes12050695
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- Publication type:
- 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
Medicine and the Movies: Lorenzo's Oil at Century's End.
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- Annals of Internal Medicine, 2000, v. 133, n. 7, p. 567, doi. 10.7326/0003-4819-133-7-200010030-00030
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- Publication type:
- Article
The subset of peroxisomal tail-anchored proteins do not reach peroxisomes via ER, instead mitochondria can be involved.
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- PLoS ONE, 2023, v. 18, n. 12, p. 1, doi. 10.1371/journal.pone.0295047
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- Article
An in-silico approach to studying a very rare neurodegenerative disease using a disease with higher prevalence with shared pathways and genes: Cerebral adrenoleukodystrophy and Alzheimer's disease.
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- Frontiers in Molecular Neuroscience, 2022, v. 15, p. 1, doi. 10.3389/fnmol.2022.996698
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- Article
Milder clinical aspects of X-linked Alport syndrome in men positive for the collagen IV α5 chain.
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- Kidney International, 2014, v. 85, n. 5, p. 1208, doi. 10.1038/ki.2013.479
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- Publication type:
- Article
Optical coherence tomography angiography reveals abnormal retinal vascular density and perfusion in patients with X-linked adrenoleukodystrophy: a cross-sectional study.
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- Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-024-03499-x
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- Publication type:
- Article
Generation and Characterization of Human iPSC-Derived Astrocytes with Potential for Modeling X-Linked Adrenoleukodystrophy Phenotypes.
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- International Journal of Molecular Sciences, 2025, v. 26, n. 4, p. 1576, doi. 10.3390/ijms26041576
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- Article
Stress Affects Mast Cell Proteases in Murine Skin in a Model of Atopic Dermatitis-like Allergic Inflammation.
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- International Journal of Molecular Sciences, 2024, v. 25, n. 11, p. 5738, doi. 10.3390/ijms25115738
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- Article
Current Strategies for Increasing Knock-In Efficiency in CRISPR/Cas9-Based Approaches.
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- International Journal of Molecular Sciences, 2024, v. 25, n. 5, p. 2456, doi. 10.3390/ijms25052456
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- Article
Human Precision-Cut Liver Slices: A Potential Platform to Study Alcohol-Related Liver Disease.
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- International Journal of Molecular Sciences, 2024, v. 25, n. 1, p. 150, doi. 10.3390/ijms25010150
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- Publication type:
- 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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- Publication type:
- 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
Peroxisomal ABC Transporters: An Update.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 11, p. 6093, doi. 10.3390/ijms22116093
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- Publication type:
- Article
Predictive Structure and Topology of Peroxisomal ATP-Binding Cassette (ABC) Transporters.
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- International Journal of Molecular Sciences, 2017, v. 18, n. 7, p. 1593, doi. 10.3390/ijms18071593
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- Article
Hematopoietic Stem Cell Transplantation for Children With Inborn Errors of Metabolism: Single Center Experience Over Two Decades.
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- Indian Pediatrics, 2022, v. 59, n. 9, p. 699, doi. 10.1007/s13312-022-2597-z
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- Publication type:
- Article
Yoga as Therapy for Neurodegenerative Disorders: A Case Report of Therapeutic Yoga for Adrenomyeloneuropathy.
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- Integrative Medicine: A Clinician's Journal, 2014, v. 13, n. 3, p. 33
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- Publication type:
- Article
Postural sway in diabetic peripheral neuropathy among Indian elderly.
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- Indian Journal of Medical Research, 2015, v. 142, n. 6, p. 713, doi. 10.4103/0971-5916.174562
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- Publication type:
- 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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- Publication type:
- Article
Whole exome sequencing reveals ABCD1 variant as a potential contributor to male infertility.
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- Molecular Biology Reports, 2025, v. 52, n. 1, p. 1, doi. 10.1007/s11033-025-10234-7
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- Article
Single‐Gene Sequencing in Newborn Screening: Success, Challenge, Hope.
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- Hastings Center Report, 2018, v. 48, p. S37, doi. 10.1002/hast.883
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- Article
融合 Transformer 与原型自监督的苹果叶部病害识别.
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- Transactions of the Chinese Society of Agricultural Engineering, 2024, v. 40, n. 23, p. 208, doi. 10.11975/j.issn.1002-6819.202405187
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- Publication type:
- 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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- Publication type:
- Article
Prenatal diagnosis of X-linked adrenoleukodystrophy associated with isolated pericardial effusion.
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- Clinical Case Reports, 2015, v. 3, n. 7, p. 643, doi. 10.1002/ccr3.283
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- Article
Correction to "Neurofilament light chain levels in cerebrospinal fluid as a sensitive biomarker for cerebral adrenoleukodystrophy".
- Published in:
- 2023
- Publication type:
- Correction Notice
Neurofilament light chain levels in cerebrospinal fluid as a sensitive biomarker for cerebral adrenoleukodystrophy.
- Published in:
- Annals of Clinical & Translational Neurology, 2023, v. 10, n. 7, p. 1230, doi. 10.1002/acn3.51818
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- Publication type:
- Article