X‐linked adrenoleukodystrophy: pathology, pathophysiology, diagnostic testing, newborn screening and therapies

BR Turk, C Theda, A Fatemi… - International Journal of …, 2020 - Wiley Online Library
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 …

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

M Engelen, S Kemp, M De Visser, BM van Geel… - Orphanet journal of rare …, 2012 - Springer
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 …

Hematopoietic stem cell gene therapy with a lentiviral vector in X-linked adrenoleukodystrophy

N Cartier, S Hacein-Bey-Abina, CC Bartholomae… - science, 2009 - science.org
X-linked adrenoleukodystrophy (ALD) is a severe brain demyelinating disease in boys that
is caused by a deficiency in ALD protein, an adenosine triphosphate–binding cassette …

[图书][B] Food lipids: chemistry, nutrition, and biotechnology

CC Akoh - 2017 - taylorfrancis.com
Maintaining the high standards that made the previous editions such well-respected and
widely used references, Food Lipids: Chemistry, Nutrition, and Biotechnology, Fourth Edition …

Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines

NE Braverman, GV Raymond, WB Rizzo… - Molecular genetics and …, 2016 - Elsevier
Peroxisome biogenesis disorders in the Zellweger spectrum (PBD-ZSD) are a
heterogeneous group of genetic disorders caused by mutations in PEX genes responsible …

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 …

International recommendations for the diagnosis and management of patients with adrenoleukodystrophy: a consensus-based approach

M Engelen, WJC Van Ballegoij, EJ Mallack… - Neurology, 2022 - AAN Enterprises
Pathogenic variants in the ABCD1 gene cause adrenoleukodystrophy (ALD), a progressive
metabolic disorder characterized by 3 core clinical syndromes: a slowly progressive …

Zellweger spectrum disorders: clinical overview and management approach

FCC Klouwer, K Berendse, S Ferdinandusse… - Orphanet journal of rare …, 2015 - Springer
Zellweger spectrum disorders (ZSDs) represent the major subgroup within the peroxisomal
biogenesis disorders caused by defects in PEX genes. The Zellweger spectrum is a clinical …

X-linked adrenoleukodystrophy

HW Moser, A Mahmood, GV Raymond - Nature Clinical Practice …, 2007 - nature.com
Abstract X-linked adrenoleukodystrophy (X-ALD) is caused by a defect in the gene ABCD1,
which maps to Xq28 and codes for a peroxisomal membrane protein that is a member of the …

Fatty acid omega‐oxidation as a rescue pathway for fatty acid oxidation disorders in humans

RJA Wanders, J Komen, S Kemp - The FEBS journal, 2011 - Wiley Online Library
Fatty acids (FAs) can be degraded via different mechanisms including α‐, β‐and ω‐
oxidation. In humans, a range of different genetic diseases has been identified in which …