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)

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  2. Novel ABCD1 Gene Mutation in a Korean Patient with X-Linked Adrenoleukodystrophy Presenting with Addison's Disease
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  16. Mental disorders in neurological diseases. Can symptoms of bipolar disorder be the first manifestation of X-linked adenoleukodystrophy? A case report
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  23. Genetic Heterogeneity in Adrenal Insufficiency
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  25. Comprehensive Care to Improve Quality of Life: A Case of Childhood Adrenoleukodystrophy
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  30. Clinical course and endocrine dysfunction in X-linked adrenoleukodystrophy: A case series
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  31. Visual Loss as the Only Clinical Manifestation in a Child with X-linked Adrenoleukodystrophy
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  32. Generation and characterization of induced pluripotent stem cell lines derived from skin fibroblasts of patients with adrenoleukodystrophy
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  42. Neuroregenerative Treatment With Radio Electric Asymmetric Conveyer Technology in Advanced Childhood Cerebral X-linked Adrenoleukodystrophy: Clinical Stabilization and Electroencephalographic Evidence of Cortico-Subcortical Reorganization
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  43. Adult onset cerebral adrenoleukodystrophy: report of an atypical case
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  45. Late-Onset X-linked Adrenoleukodystrophy: A Rare Cause of Progressive Spastic Paraparesis
    Sofia Sequeira, André Costa, Mariana Vargas, Ana Graça Velon · 2025 · Cureus
  46. Additional file 2 of Multivariate analysis and model building for classifying patients in the peroxisomal disorders X-linked adrenoleukodystrophy and Zellweger syndrome in Chinese pediatric patients
    Zhu, Zhixing, Georgi Z. Genchev, Yanmin Wang, Ji, Wei, Xiaofen Zhang, Lu, Hui, Sira Sriswasdi, Guoli Tian · 2024 · Figshare
  47. Additional file 1 of Easily misdiagnosed X-linked adrenoleukodystrophy
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  48. Additional file 2 of Burden of illness and mortality in men with Adrenomyeloneuropathy: a retrospective cohort study
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  49. Additional file 1 of Patient-reported impact of symptoms in adrenoleukodystrophy (PRISM-ALD)
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  50. Additional file 1 of Burden of illness and mortality in men with Adrenomyeloneuropathy: a retrospective cohort study
    Joshua L. Bonkowsky, Bridget E. Healey, Naomi C. Sacks, Ronaé McLin, Cyr, Philip L., Eileen K. Sawyer, Christopher D. Stephen, Florian Eichler · 2024 · Figshare
  51. Additional file 1 of Multivariate analysis and model building for classifying patients in the peroxisomal disorders X-linked adrenoleukodystrophy and Zellweger syndrome in Chinese pediatric patients
    Zhu, Zhixing, Georgi Z. Genchev, Yanmin Wang, Ji, Wei, Xiaofen Zhang, Lu, Hui, Sira Sriswasdi, Guoli Tian · 2024 · Figshare
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  54. Inactivation génique des transporteurs ABC peroxysomaux ABCD1 et ABCD2 dans les cellules microgliales BV-2 : étude de la physiopathogenèse de l’adrénoleucodystrophie liée à l’X.
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  58. Deciphering the role of MYC Gene Variants in Childhood Cerebral Adrenoleukodystrophy (ccALD) using Integrative Transcriptomic and Variant Analysis
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  59. A Chinese X‐Linked Adrenoleukodystrophy Patient With Atypical Clinical Symptoms Contained an Undefined ABCD1 Mutation—A Case Report and Literature Review
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  60. Fulminant Adrenal Crisis as the Initial Healthcare System Presentation of Adolescent Cerebral X‐Linked Adrenoleukodystrophy
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  61. National Trends in MRI Screening and Transplant for US Adult Men With X-Linked Adrenoleukodystrophy
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  62. X-Linked Cerebral Adrenoleukodystrophy Presenting With Acute Encephalitis-Like Illness and Optic Neuropathy in a Child
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  63. A novel ABCD1 frameshift mutation detected in a Chinese male with adrenomyeloneuropathy
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  64. Cerebral X-Linked Adrenoleukodystrophy Associated with Hemophilia A: A Case Report
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