Works matching DE "ADRENOLEUKODYSTROPHY"
Results: 448
In-frame deletion variant of ABCD1 in a sporadic case of adrenoleukodystrophy.
- Published in:
- Human Genome Variation, 2025, v. 12, n. 1, p. 1, doi. 10.1038/s41439-025-00309-z
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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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- Publication type:
- Article
Peroxisomes are present in murine spermatogonia and disappear during the course of spermatogenesis.
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- Histochemistry & Cell Biology, 2006, v. 125, n. 6, p. 693, doi. 10.1007/s00418-005-0114-9
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- Publication type:
- Article
From Virus to vector to medicine: Foreword by guest editors.
- Published in:
- 2017
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- Publication type:
- Editorial
Focus on myelin.
- Published in:
- Inside MS, 1993, v. 11, n. 1, p. 9
- Publication type:
- Article
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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- Publication type:
- Article
Typical and atypical phenotype and neuroimaging of X-linked adrenoleukodystrophy in a Chinese cohort.
- Published in:
- 2022
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- Publication type:
- journal article
Optical coherence tomography in adult adrenoleukodystrophy: a cross-sectional and longitudinal study.
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- Neurological Sciences, 2021, v. 42, n. 1, p. 235, doi. 10.1007/s10072-020-04576-2
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- Publication type:
- Article
A novel missense mutation in the ABCD1 gene of a Chinese boy diagnosed with X-linked adrenoleukodystrophy: case report.
- Published in:
- 2019
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- Publication type:
- journal article
Effectiveness of valproate for the treatment of manic-like behavior in X-linked adrenoleukodystrophy.
- Published in:
- 2012
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- Publication type:
- Letter
Alcohol-Associated Liver Disease Outcomes: Critical Mechanisms of Liver Injury Progression.
- Published in:
- 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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- Publication type:
- Article
ABCD1 Transporter Deficiency Results in Altered Cholesterol Homeostasis.
- Published in:
- Biomolecules (2218-273X), 2023, v. 13, n. 9, p. 1333, doi. 10.3390/biom13091333
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- Publication type:
- Article
A case of adrenomyeloneuropathy caused by a novel point mutation in the ABCD1 gene and functional verification.
- Published in:
- Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1421122
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- Publication type:
- Article
A case of adrenomyeloneuropathy caused by a novel point mutation in the ABCD1 gene and functional verification.
- Published in:
- Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1421122
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- Publication type:
- Article
A case of adrenomyeloneuropathy caused by a novel point mutation in the ABCD1 gene and functional verification.
- Published in:
- Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1421122
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- Publication type:
- Article
Characterization of a Pathogenic Variant in the ABCD1 Gene Through Protein Molecular Modeling.
- Published in:
- Case Reports in Genetics, 2020, p. 1, doi. 10.1155/2020/3256539
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- Publication type:
- Article
A Tanzanian Boy with Molecularly Confirmed X-Linked Adrenoleukodystrophy.
- Published in:
- Case Reports in Genetics, 2019, p. 1, doi. 10.1155/2019/6148425
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- Publication type:
- Article
No evidence for the reversal of adrenal failure after hematopoietic cell transplantation in X-linked adrenoleukodystrophy.
- Published in:
- Bone Marrow Transplantation, 2012, v. 47, n. 10, p. 1377, doi. 10.1038/bmt.2012.33
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- Publication type:
- 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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- Publication type:
- Article
SKIN HYPERPIGMENTATION: FROM ENDOCRINE DYSFUNCTION TO PEROXISOMAL DISEASE.
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- Pediatric Oncall Journal, 2017, v. 14, n. 3, p. 68, doi. 10.7199/ped.oncall.2017.24
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- Publication type:
- Article
Successful Pregnancy Following Preimplantation Genetic Diagnosis of Adrenoleukodystrophy by Detection of Mutation on the ABCD1 Gene.
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- Application of Clinical Genetics, 2021, v. 14, p. 313, doi. 10.2147/TACG.S318884
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- Publication type:
- Article
The genetic landscape of X-linked adrenoleukodystrophy: inheritance, mutations, modifier genes, and diagnosis.
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- Application of Clinical Genetics, 2015, v. 8, p. 109, doi. 10.2147/TACG.S49590
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- Publication type:
- Article
Gene Therapy and ADL.
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- JAMA: Journal of the American Medical Association, 2009, v. 302, n. 23, p. 2531, doi. 10.1001/jama.2009.1841
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- Publication type:
- Article
Role of silymarin as antioxidant in clinical management of chronic liver diseases: a narrative review.
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- Annals of Medicine, 2022, v. 54, n. 1, p. 1548, doi. 10.1080/07853890.2022.2069854
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- Publication type:
- 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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- Publication type:
- Article
Justifying the Expansion of Neonatal Screening: Two Cases.
- Published in:
- Public Health Ethics, 2019, v. 12, n. 3, p. 250, doi. 10.1093/phe/phz013
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- Publication type:
- Article
Impaired peroxisomal beta-oxidation in microglia triggers oxidative stress and impacts neurons and oligodendrocytes.
- Published in:
- Frontiers in Molecular Neuroscience, 2025, p. 1, doi. 10.3389/fnmol.2025.1542938
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- Publication type:
- Article
Gene therapy finds its niche.
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- Nature Biotechnology, 2011, v. 29, n. 2, p. 121, doi. 10.1038/nbt.1769
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- Publication type:
- Article
Research highlights.
- Published in:
- 2009
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- Publication type:
- Abstract
Baicalein 5,6,7-trimethyl ether, a flavonoid derivative, stimulates fatty acid β-oxidation in skin fibroblasts of X-linked adrenoleukodystrophy
- Published in:
- FEBS Letters, 2005, v. 579, n. 2, p. 409, doi. 10.1016/j.febslet.2004.11.102
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- Publication type:
- Article
The Changing Face of Adrenoleukodystrophy.
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- Endocrine Reviews, 2020, v. 41, n. 4, p. 577, doi. 10.1210/endrev/bnaa013
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- Publication type:
- Article
Control of germination and lipid mobilization by COMATOSE, the Arabidopsis homologue of human ALDP.
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- EMBO Journal, 2002, v. 21, n. 12, p. 2912, doi. 10.1093/emboj/cdf300
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- Publication type:
- Article
Oral Presentations.
- Published in:
- Developmental Medicine & Child Neurology, 2015, v. 57, p. 2, doi. 10.1111/dmcn.12653
- Publication type:
- Article
Magnetic resonance spectroscopy changes following haemopoietic stem cell transplantation in children with cerebral adrenoleukodystrophy.
- Published in:
- Developmental Medicine & Child Neurology, 2007, v. 49, n. 2, p. 135, doi. 10.1111/j.1469-8749.2007.00135.x
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- Publication type:
- Article
Characterization of the human ω-oxidation pathway for ω-hydroxy-very-long-chain fatty acids.
- Published in:
- FASEB Journal, 2008, v. 22, n. 6, p. 2064, doi. 10.1096/fj.07-099150
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- Publication type:
- Article
Neonatal adrenoleukodystrophy with long-term survival.
- Published in:
- FASEB Journal, 2007, v. 21, n. 5, p. A401, doi. 10.1096/fasebj.21.5.a401-c
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- Publication type:
- Article
Metabolism of 8-iso-PGF2alpha and conjugated linoleic acid (CLA) in vivo and in X-Adrenoleukodystrophy fibroblasts.
- Published in:
- FASEB Journal, 2007, v. 21, n. 5, p. A23, doi. 10.1096/fasebj.21.5.a23-c
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- Publication type:
- Article
Mechanisms of Pharmacogenetic Therapy for X-linked Adrenoleukodystrophy.
- Published in:
- 2000
- Publication type:
- Abstract
Lovastatin therapy for X-linked adrenoleukodystrophy (X-ALD).
- Published in:
- 1999
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- Publication type:
- Abstract
Intra-peroxisomal localization of very long chain fatty acyl CoA. synthetase: Implications in X-ALD.
- Published in:
- 1999
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- Publication type:
- Abstract
Inducible nitric oxide synthase in the central nervous system of patients with X-Adrenoleukodystrophy.
- Published in:
- 1999
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- Publication type:
- Abstract
Hematopoietic Stem Cell Transplantation for Children With Inborn Errors of Metabolism: Single Center Experience Over Two Decades.
- Published in:
- Indian Pediatrics, 2022, v. 59, n. 9, p. 699, doi. 10.1007/s13312-022-2597-z
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- Publication type:
- Article
BREAKTHROUGH IN GENE THERAPY.
- Published in:
- Indian Pediatrics, 2009, v. 46, n. 12, p. 1109
- Publication type:
- Article
Anesthesia management of a child with adrenoleukodystrophy.
- Published in:
- 2006
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- Publication type:
- Letter
Adrenoleukodystrophy initially presenting with symptoms of dementia.
- Published in:
- Psychogeriatrics, 2007, v. 7, n. 4, p. 163, doi. 10.1111/j.1479-8301.2007.00195.x
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- Publication type:
- Article
Management of Red Teeth in an International Patient with X-Linked Adrenoleukodystrophy.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Whole exome sequencing reveals ABCD1 variant as a potential contributor to male infertility.
- Published in:
- Molecular Biology Reports, 2025, v. 52, n. 1, p. 1, doi. 10.1007/s11033-025-10234-7
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- Publication type:
- Article
Stoffwechselstörungen mit typischen Veränderungen im MRT.
- Published in:
- Der Radiologe, 2010, v. 50, n. 9, p. 775, doi. 10.1007/s00117-009-1951-7
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- Publication type:
- Article
Adrenoleucodystrophy: dermatological findings and skin surface lipid study.
- Published in:
- 1994
- By:
- Publication type:
- journal article