[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 …
Adrenoleukodystrophy–neuroendocrine pathogenesis and redefinition of natural history
S Kemp, IC Huffnagel, GE Linthorst… - Nature Reviews …, 2016 - nature.com
X-Linked adrenoleukodystrophy (ALD) is a peroxisomal metabolic disorder with a highly
complex clinical presentation. ALD is caused by mutations in the ABCD1 gene, which leads …
complex clinical presentation. ALD is caused by mutations in the ABCD1 gene, which leads …
X-linked adrenoleukodystrophy: pathogenesis and treatment
Abstract X-linked adrenoleukodystrophy (X-ALD) is a puzzling inborn error of metabolism
with a strikingly heterogeneous clinical spectrum. All patients have mutations in the ABCD1 …
with a strikingly heterogeneous clinical spectrum. All patients have mutations in the ABCD1 …
General aspects and neuropathology of X‐linked adrenoleukodystrophy
I Ferrer, P Aubourg, A Pujol - Brain pathology, 2010 - Wiley Online Library
Abstract X‐adrenoleukodystrophy (X‐ALD) is a metabolic, peroxisomal disease affecting the
nervous system, adrenal cortex and testis resulting from inactivating mutations in ABCD1 …
nervous system, adrenal cortex and testis resulting from inactivating mutations in ABCD1 …
X-linked adrenoleukodystrophy: genes, mutations, and phenotypes
KD Smith, S Kemp, LT Braiterman, JF Lu, HM Wei… - Neurochemical …, 1999 - Springer
Abstract X-linked adrenoleukodystrophy (X-ALD) is a complex and perplexing
neurodegenerative disorder. The metabolic abnormality, elevated levels of very long-chain …
neurodegenerative disorder. The metabolic abnormality, elevated levels of very long-chain …
[HTML][HTML] Pathophysiology of X-linked adrenoleukodystrophy
J Berger, S Forss-Petter, FS Eichler - Biochimie, 2014 - Elsevier
Currently the molecular basis for the clinical heterogeneity of X-linked
adrenoleukodystrophy (X-ALD) is poorly understood. The genetic bases for all different …
adrenoleukodystrophy (X-ALD) is poorly understood. The genetic bases for all different …
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 …
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;> …
[HTML][HTML] X-linked adrenoleukodystrophy: clinical, biochemical and pathogenetic aspects
J Berger, J Gärtner - Biochimica et Biophysica Acta (BBA)-Molecular Cell …, 2006 - Elsevier
X-linked adrenoleukodystrophy (X-ALD) is a clinically heterogeneous disorder ranging from
the severe childhood cerebral form to asymptomatic persons. The overall incidence is 1 …
the severe childhood cerebral form to asymptomatic persons. The overall incidence is 1 …