X‐linked adrenoleukodystrophy: pathology, pathophysiology, diagnostic testing, newborn screening and therapies
Adrenoleukodystrophy (ALD) is a rare X‐linked disease caused by a mutation of the
peroxisomal ABCD1 gene. This review summarizes our current understanding of the …
peroxisomal ABCD1 gene. This review summarizes our current understanding of the …
The genetic landscape of X-linked adrenoleukodystrophy: inheritance, mutations, modifier genes, and diagnosis
C Wiesinger, FS Eichler, J Berger - The application of clinical …, 2015 - Taylor & Francis
X-linked adrenoleukodystrophy (X-ALD) is caused by mutations in the ABCD1 gene
encoding a peroxisomal ABC transporter. In this review, we compare estimates of incidence …
encoding a peroxisomal ABC transporter. In this review, we compare estimates of incidence …
The changing face of adrenoleukodystrophy
J Zhu, F Eichler, A Biffi, CN Duncan… - Endocrine …, 2020 - academic.oup.com
Adrenoleukodystrophy (ALD) is a rare X-linked disorder of peroxisomal oxidation due to
mutations in ABCD1. It is a progressive condition with a variable clinical spectrum that …
mutations in ABCD1. It is a progressive condition with a variable clinical spectrum that …
[HTML][HTML] X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management
Abstract X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder.
The disease is caused by mutations in the ABCD1 gene that encodes the peroxisomal …
The disease is caused by mutations in the ABCD1 gene that encodes the peroxisomal …
[HTML][HTML] X-linked adrenoleukodystrophy: clinical, metabolic, genetic and pathophysiological aspects
S Kemp, J Berger, P Aubourg - … Et Biophysica Acta (BBA)-Molecular Basis …, 2012 - Elsevier
X-linked adrenoleukodystrophy (X-ALD) is the most frequent peroxisomal disease. The two
main clinical phenotypes of X-ALD are adrenomyeloneuropathy (AMN) and inflammatory …
main clinical phenotypes of X-ALD are adrenomyeloneuropathy (AMN) and inflammatory …
Targeted inactivation of the X‐linked adrenoleukodystrophy gene in mice
S Forss‐Petter, H Werner, J Berger… - Journal of …, 1997 - Wiley Online Library
In its severe form, X‐linked adrenoleukodystrophy (ALD) is a lethal neurologic disease of
children, characterized by progressive cerebral demyelination and adrenal insufficiency …
children, characterized by progressive cerebral demyelination and adrenal insufficiency …
Early oxidative damage underlying neurodegeneration in X-adrenoleukodystrophy
S Fourcade, J Lopez-Erauskin, J Galino… - Human molecular …, 2008 - academic.oup.com
Abstract X-linked adrenoleukodystrophy (X-ALD) is a fatal neurodegenerative disorder,
characterized by progressive cerebral demyelination cerebral childhood …
characterized by progressive cerebral demyelination cerebral childhood …
Biochemical aspects of X‐linked adrenoleukodystrophy
S Kemp, R Wanders - Brain Pathology, 2010 - Wiley Online Library
Abstract X‐linked adrenoleukodystrophy (X‐ALD) is the most common peroxisomal disorder.
The disease is characterized by the accumulation of very long‐chain fatty acids (VLCFA;> …
The disease is characterized by the accumulation of very long‐chain fatty acids (VLCFA;> …
A mouse model for X-linked adrenoleukodystrophy
JF Lu, AM Lawler, PA Watkins… - Proceedings of the …, 1997 - National Acad Sciences
X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder with impaired β-oxidation
of very long chain fatty acids (VLCFAs) and reduced function of peroxisomal very long chain …
of very long chain fatty acids (VLCFAs) and reduced function of peroxisomal very long chain …
Role of ALDP (ABCD1) and mitochondria in X-linked adrenoleukodystrophy
MC McGuinness, JF Lu, HP Zhang… - … and cellular biology, 2003 - Taylor & Francis
Peroxisomal disorders have been associated with malfunction of peroxisomal metabolic
pathways, but the pathogenesis of these disorders is largely unknown. X-linked …
pathways, but the pathogenesis of these disorders is largely unknown. X-linked …