X-linked adrenoleukodystrophy: clinical, metabolic, genetic and pathophysiological aspects.
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Brain Lipotoxicity of Phytanic Acid and Very Long-chain Fatty Acids. Harmful Cellular/Mitochondrial Activities in Refsum Disease and X-Linked AdrenoleukodystrophyPeroxisomes in brain development and functionThe genetic landscape of X-linked adrenoleukodystrophy: inheritance, mutations, modifier genes, and diagnosisNext generation sequencing in endocrine practiceBezafibrate for X-linked adrenoleukodystrophyC26:0-Carnitine Is a New Biomarker for X-Linked Adrenoleukodystrophy in Mice and ManAdult-onset cerebello-brainstem dominant form of X-linked adrenoleukodystrophy presenting as multiple system atrophy: case report and literature review.Oxidative stress and adrenocortical insufficiency.Isolated cerebellar variant of adrenoleukodystrophy with a de novo adenosine triphosphate-binding cassette D1 (ABCD1) gene mutationAbcd2 is a strong modifier of the metabolic impairments in peritoneal macrophages of ABCD1-deficient micePathophysiology of X-linked adrenoleukodystrophy.Thioredoxin Reductase 2 (TXNRD2) mutation associated with familial glucocorticoid deficiency (FGD).Metabolism of very long-chain Fatty acids: genes and pathophysiology.X-linked adrenoleukodystrophy: molecular and functional analysis of the ABCD1 gene in Argentinean patientsEvaluation of retinoids for induction of the redundant gene ABCD2 as an alternative treatment option in X-linked adrenoleukodystrophy.Involvement of the carboxyl-terminal region of the yeast peroxisomal half ABC transporter Pxa2p in its interaction with Pxa1p and in transporter function.Loss of AMP-activated protein kinase induces mitochondrial dysfunction and proinflammatory response in unstimulated Abcd1-knockout mice mixed glial cells.Bladder and Bowel Dysfunction Is Common in Both Men and Women with Mutation of the ABCD1 Gene for X-Linked Adrenoleukodystrophy.A novel mutation in the ABCD1 gene of a Moroccan patient with X-linked adrenoleukodystrophy: case report.Clinical applications involving CNS gene transfer.Induced pluripotent stem cell models of Zellweger spectrum disorder show impaired peroxisome assembly and cell type-specific lipid abnormalities.Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegiaPathoetiology of multiple sclerosis: are we barking up the wrong tree?Impaired very long-chain acyl-CoA β-oxidation in human X-linked adrenoleukodystrophy fibroblasts is a direct consequence of ABCD1 transporter dysfunction.The important role of biochemical and functional studies in the diagnostics of peroxisomal disordersAdrenoleukodystrophy and the mitochondrial connection: clues for supplementing Lorenzo's oil.Glutathione imbalance in patients with X-linked adrenoleukodystrophyDeficiency of ALADIN impairs redox homeostasis in human adrenal cells and inhibits steroidogenesis.Clinical and genetic aspects in twelve Korean patients with adrenomyeloneuropathy.Role of ABC transporters in lipid transport and human disease.X-linked adrenoleukodystrophy: pathogenesis and treatment.Expanded newborn screening by mass spectrometry: New tests, future perspectives.Oxidative Stress in Patients with X-Linked Adrenoleukodystrophy.Peroxisomal Disorders: A Review on Cerebellar Pathologies.A Review of X-linked Charcot-Marie-Tooth Disease.Functional characterisation of peroxisomal β-oxidation disorders in fibroblasts using lipidomics.X-linked adrenoleukodystrophy: very long-chain fatty acid metabolism is severely impaired in monocytes but not in lymphocytes.Long-term outcomes of allogeneic haematopoietic stem cell transplantation for adult cerebral X-linked adrenoleukodystrophy.Adrenoleukodystrophy - neuroendocrine pathogenesis and redefinition of natural history.Rare diseases in clinical endocrinology: a taxonomic classification system.
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P2860
X-linked adrenoleukodystrophy: clinical, metabolic, genetic and pathophysiological aspects.
description
article científic
@ca
article scientifique
@fr
articol științific
@ro
articolo scientifico
@it
artigo científico
@gl
artigo científico
@pt
artigo científico
@pt-br
artikel ilmiah
@id
artikull shkencor
@sq
artículo científico
@es
name
X-linked adrenoleukodystrophy: ...... nd pathophysiological aspects.
@en
type
label
X-linked adrenoleukodystrophy: ...... nd pathophysiological aspects.
@en
prefLabel
X-linked adrenoleukodystrophy: ...... nd pathophysiological aspects.
@en
P1476
X-linked adrenoleukodystrophy: ...... and pathophysiological aspects
@en
P2093
Patrick Aubourg
P304
P356
10.1016/J.BBADIS.2012.03.012
P407
P577
2012-03-28T00:00:00Z