Advances in the treatment of adrenoleukodystrophy [PDF]
Shanghai Jiaotong Daxue xuebao. Yixue banAdrenoleukodystrophy (ALD) is an X-linked, potentially fatal peroxisome disease, characterized by three main clinical phenotypes: adrenomyeloneuropathy (AMN), cerebral adrenoleukodystrophy (CALD), and primary adrenal insufficiency.
LIU Xiaoli, CAO Li
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Infantile Spasms, Hypsarrhythmia, and Adrenoleukodystrophy (ALD)
Pediatric Neurology Briefs, 1988 An 8 1/2 month-old girl with seizures beginning at 5 days, hypsarrhythmia in the EEG, severe retardation, and a clinical diagnosis of infantile spasms was discovered to have biochemical and pathological features of adrenoleukodystrophy, as reported from ...
J Gordon Millichap
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X-linked adrenoleukodystrophy and primary adrenal insufficiency [PDF]
Frontiers in Endocrinology, 2023 X-linked adrenoleukodystrophy (X-ALD; OMIM:300100) is a progressive neurodegenerative disorder caused by a congenital defect in the ATP-binding cassette transporters sub-family D member 1 gene (ABCD1) producing adrenoleukodystrophy protein (ALDP ...
Marco Cappa +2 more
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Novel Gene Mutation in a Korean Patient with X-Linked Adrenoleukodystrophy Presenting with Addison's Disease [PDF]
Endocrinology and Metabolism, 2020 X-linked adrenoleukodystrophy (X-ALD) occurs due to mutations in the ABCD1 gene that encodes the peroxisomal membrane protein peroxisomal transporter ATP-binding cassette sub-family D member 1 (ABCD1).
Yun Kyung Cho +2 more
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The Role of Oxidative Stress and Inflammation in X-Link Adrenoleukodystrophy
Frontiers in Nutrition, 2022 X-linked adrenoleukodystrophy (X-ALD) is an inherited disease caused by a mutation in the ABCD1 gene encoding a peroxisomal transmembrane protein. It is characterized by the accumulation of very-long-chain fatty acids (VLCFAs) in body fluids and tissues,
Jiayu Yu +11 more
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X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management. [PDF]
, 2012 International audienceABSTRACT: 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 membrane protein ALDP which is involved in the transmembrane ...
van Geel, Björn M. +17 more
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Stem Cell Research, 2022 X-linked adrenoleukodystrophy (ALD) caused by the ABCD1 mutation, is the most common inherited peroxisomal disease. Previously, we generated an ALD patient-derived SCHi001-A iPSC model.
Eul Sik Jung +11 more
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Adrenoleukodystrophy: Two Case Reports and a Review of the Literature
Endocrinology Research and Practice, 2022 X-linked adrenoleukodystrophy (ALD) is an inherited disease characterized by progressive neurologic dysfunction, occasionally associated with adrenal insufficiency.
Bülent Okan Yıldız, Olcay Gedik
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Diagnostic imaging and biochemical findings of rare inherited X-linked adrenoleukodystrophy in a child [PDF]
Srpski Arhiv za Celokupno Lekarstvo, 2017 Introduction. Adrenoleukodystrophy (ALD) is a rare genetic disease, caused by mutations in ABCD1 gene located on the X chromosome (X-ALD), underdiagnosed worldwide. Case Outline.
Serapinas Danielius +6 more
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Newborn Screening for X-Linked Adrenoleukodystrophy: The Initial Illinois Experience
International Journal of Neonatal Screening, 2022 X-linked adrenoleukodystrophy (X-ALD) is a genetic neurodegenerative disorder with an approximate incidence of 1 in 14,700 births. Both males and females are affected.
Barbara K. Burton +7 more
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