Adrenoleukodystrophy—Neuroendocrine pathogenesis and redefinition of natural history

Kemp, Stephan, Huffnagel, Irene C., Linthorst, Gabor E., Wanders, Ronald J., Engelen, Marc·2016·Nature Reviews Endocrinology
DOI 10.1038/nrendo.2016.90

Cited by (276)

Items 101–200 of 276

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  7. Clinical characteristics and phenotype distribution in 10 Chinese patients with X‑linked adrenoleukodystrophy
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  8. Optical coherence tomography shows neuroretinal thinning in myelopathy of adrenoleukodystrophy
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  9. A novel ABCD1 G1202A mutation in a Chinese patient with pure adrenomyeloneuropathy and literature review
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  10. Beneficial Effects of the Direct AMP-Kinase Activator PXL770 in In Vitro and In Vivo Models of X-Linked Adrenoleukodystrophy
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  11. Activating cannabinoid receptor 2 preserves axonal health through GSK-3β/NRF2 axis in adrenoleukodystrophy
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  12. Psychiatric disease in an adolescent as a harbinger of cerebral X-linked adrenoleukodystrophy
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  13. Uncommon Non-MS Demyelinating Disorders of the Central Nervous System
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  14. Altered lipid profile and reduced neuronal support in human induced pluripotent stem cell ‐derived astrocytes from adrenoleukodystrophy patients
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  17. Overall intact cognitive function in male X-linked adrenoleukodystrophy adults with normal MRI
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  19. Postural Body Sway as Surrogate Outcome for Myelopathy in Adrenoleukodystrophy
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  21. ABCD1 gene mutation in an Italian family with X-linkedadrenoleukodystrophy: case series
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  23. An in vitro and in vivo efficacy evaluation of gene therapy candidate SBT101 in mouse models of adrenomyeloneuropathy and in NHPs
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  24. Fatty acid elongation by ELOVL condensing enzymes depends on a histidine nucleophile
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  25. Diagnosing X-Linked Adrenoleukodystrophy after Implementation of Newborn Screening: A Reference Laboratory Perspective
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  27. Clinical and Genetic Characteristics of Leukodystrophies in Africa
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  28. Laboratory Diagnosis of Peroxisomal Disorders in the -Omics Era and the Continued Importance of Biomarkers and Biochemical Studies
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  29. Exogenous Addition of 25‐Hydroxycholesterol Reduces Level of Very Long‐Chain Fatty Acids in X‐Linked Adrenoleukodystrophy
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  30. Spastic paraplegia as the predominant phenotype in a cohort of Chinese patients with adrenoleukodystrophy
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  32. Phase I clinical trial of intracerebral injection of lentiviral-ABCD1 for the treatment of cerebral adrenoleukodystrophy
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  34. Peroxisomal leukodystrophy
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  37. The clinical spectrum of X-linked adrenoleukodystrophy: from Addison’s-only in men to middle-age neurologic manifestations in women
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  38. Primary Adrenal Insufficiency in a Boy with Type I Diabetes: The Importance of Considering X-linked Adrenoleukodystrophy
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  39. Patient-reported impact of symptoms in adrenoleukodystrophy (PRISM-ALD)
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  40. Multivariate analysis and model building for classifying patients in the peroxisomal disorders X-linked adrenoleukodystrophy and Zellweger syndrome in Chinese pediatric patients
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  41. Increased neurotoxicity of high‐density lipoprotein secreted from murine reactive astrocytes deficient in a peroxisomal very‐long‐chain fatty acid transporter Abcd1
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  42. Adrenoleucodistrofia ligada a X: Un caso de presentación aguda cerebral infantil
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  43. Hypogonadism in Males With Genetic Neurodevelopmental Syndromes
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  45. Experiences of mothers of long-term surviving patients with cerebral adrenoleukodystrophy: a qualitative study
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  46. A Novel Variant in ABCD1 Gene Presenting as Adolescent-Onset Atypical Adrenomyeloneuropathy With Spastic Ataxia
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  47. The variability conundrum in neurometabolic degenerative diseases
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  48. Inborn Errors of Non-Mitochondrial Fatty Acid Metabolism Including Peroxisomal Disorders
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  49. Investigating ABCD1 mutations in a Taiwanese cohort with hereditary spastic paraplegia phenotype
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  50. Burden of illness and mortality in men with Adrenomyeloneuropathy: a retrospective cohort study
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  52. A scoping review of stem cell models of leukodystrophies: advances in understanding pathophysiological mechanisms
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  53. Syndromes associated with abnormalities in the adrenal cortex
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  54. Targeted gene approach with biochemical assay confirms ABCD1 mutation of X-linked adrenoleukodystrophy in a 62-year-old man with gait imbalance
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  57. Translational and clinical pharmacology considerations in drug repurposing for X‐linked adrenoleukodystrophy—A rare peroxisomal disorder
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  58. Accelerated Course of Cerebral Adrenoleukodystrophy After Coronavirus Disease 2019 Infection
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  59. Development of a rabbit model for adrenoleukodystrophy: A pilot study on gene therapy using rAAV9
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  61. Management of X-linked adrenoleukodystrophy in Morocco: actual situation
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