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2017
X-linked adrenoleukodystrophy (X-ALD) is a maternally inherited peroxisomal disorder caused by single-gene mutations in ABCD1 that causes a broad spectrum of disease phenotypes in male patients and in female carriers. The most severe form, childhood cerebral adrenoleukodystrophy (CCALD), presents as an inflammatory demyelinating process with rapid ...
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X-linked adrenoleukodystrophy (X-ALD) is a maternally inherited peroxisomal disorder caused by single-gene mutations in ABCD1 that causes a broad spectrum of disease phenotypes in male patients and in female carriers. The most severe form, childhood cerebral adrenoleukodystrophy (CCALD), presents as an inflammatory demyelinating process with rapid ...
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1995
X-linked adrenoleukodystrophy (XALD) is a genetically determined disorder that mainly involves the adrenal cortex and white matter structures of the CNS. Inheritance is X-linked recessive. The disease has a wide phenotypic variability. The childhood cerebral form is the most frequent and accounts for about half of the cases. The second most common form
Marjo S. van der Knaap, Jacob Valk
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X-linked adrenoleukodystrophy (XALD) is a genetically determined disorder that mainly involves the adrenal cortex and white matter structures of the CNS. Inheritance is X-linked recessive. The disease has a wide phenotypic variability. The childhood cerebral form is the most frequent and accounts for about half of the cases. The second most common form
Marjo S. van der Knaap, Jacob Valk
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2018
An 8-year-old boy presented with complaints of blurred vision in both eyes for 1 month. Recent frequent falling and inattention in the classroom were cited. Hearing impairment and frequent water drinking were also noted by his parents. The patient’s family history included the fact that he was adopted as a 10-day-old and his biological parents were ...
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An 8-year-old boy presented with complaints of blurred vision in both eyes for 1 month. Recent frequent falling and inattention in the classroom were cited. Hearing impairment and frequent water drinking were also noted by his parents. The patient’s family history included the fact that he was adopted as a 10-day-old and his biological parents were ...
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Newborn Screening for X-Linked Adrenoleukodystrophy: Review of Data and Outcomes in Pennsylvania
International Journal of Neonatal Screening, 2022Laura A Adang +2 more
exaly
X-linked adrenoleukodystrophy in a child
QJM: An International Journal of MedicineS Y Lee, F Y Chew, C M Chen
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The role of ELOVL1 in very long‐chain fatty acid homeostasis and X‐linked adrenoleukodystrophy
EMBO Molecular Medicine, 2010Inge M E Dijkstra +2 more
exaly
[X-linked adrenoleukodystrophy].
Annales d'endocrinologie, 2008X-linked adrenoleukodystrophy (ALD) is a severe neurodegenerative disorder. ALD is characterized by progressive demyelination within the central and peripheral nervous system, adrenal insufficiency (Addison's disease) and accumulation of very-long-chain fatty acids (VLCFA) in plasma, fibroblasts and tissues.
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