X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management

Preferential expression of mutant ABCD1 allele is common in adrenoleukodystrophy female carriers but unrelated to clinical symptoms

(2012) Ettore Salsano et al.   Orphanet Journal of Rare Diseases

Antioxidants halt axonal degeneration in a mouse model of X-adrenoleukodystrophy

(2011) Jone López-Erauskin et al.   ANNALS OF NEUROLOGY

Outcomes after allogeneic hematopoietic cell transplantation for childhood cerebral adrenoleukodystrophy: the largest single-institution cohort report

(2011) W. P. Miller et al.   BLOOD

Mammalian peroxisomal ABC transporters: from endogenous substrates to pathology and clinical significance

(2011) Stephan Kemp et al.   BRITISH JOURNAL OF PHARMACOLOGY

Functional genomic analysis unravels a metabolic-inflammatory interplay in adrenoleukodystrophy

(2011) Agatha Schlüter et al.   HUMAN MOLECULAR GENETICS

Presentation of Primary Adrenal Insufficiency in Childhood

(2011) Susan Hsieh et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

X-linked adrenomyeloneuropathy due to a novel missense mutation in the ABCD1 start codon presenting as demyelinating neuropathy

(2011) Marc Engelen et al.   JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM

X-linked adrenoleukodystrophy: ABCD1 de novo mutations and mosaicism

(2011) Ying Wang et al.   MOLECULAR GENETICS AND METABOLISM

Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene

(2011) Caroline Sevin et al.   Orphanet Journal of Rare Diseases

Peroxisomes, lipid metabolism and lipotoxicity

(2010) R.J.A. Wanders et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS

The role of ELOVL1 in very long-chain fatty acid homeostasis and X-linked adrenoleukodystrophy

(2010) Rob Ofman et al.   EMBO Molecular Medicine

Lovastatin in X-Linked Adrenoleukodystrophy

(2010) Marc Engelen et al.   NEW ENGLAND JOURNAL OF MEDICINE

Head trauma can initiate the onset of adreno-leukodystrophy

(2009) Gerald V. Raymond et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Newborn screening for X-linked adrenoleukodystrophy (X-ALD): Validation of a combined liquid chromatography–tandem mass spectrometric (LC–MS/MS) method

(2009) Walter C. Hubbard et al.   MOLECULAR GENETICS AND METABOLISM

Invited Article: An MRI-based approach to the diagnosis of white matter disorders

(2009) R. Schiffmann et al.   NEUROLOGY

Hematopoietic Stem Cell Gene Therapy with a Lentiviral Vector in X-Linked Adrenoleukodystrophy

(2009) N. Cartier et al.   SCIENCE

Is microglial apoptosis an early pathogenic change in cerebral X-linked adrenoleukodystrophy?

(2008) Florian S. Eichler et al.   ANNALS OF NEUROLOGY

The human peroxisomal ABC half transporter ALDP functions as a homodimer and accepts acyl-CoA esters

(2008) Carlo W. T. van Roermund et al.   FASEB JOURNAL

Toxic effects of X-linked adrenoleukodystrophy-associated, very long chain fatty acids on glial cells and neurons from rat hippocampus in culture

(2008) S. Hein et al.   HUMAN MOLECULAR GENETICS

Early oxidative damage underlying neurodegeneration in X-adrenoleukodystrophy

(2008) S. Fourcade et al.   HUMAN MOLECULAR GENETICS

Quantitative magnetization transfer characteristics of the human cervical spinal cord in vivo: Application to Adrenomyeloneuropathy

(2008) Seth A. Smith et al.   MAGNETIC RESONANCE IN MEDICINE