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Meanings of x-ald in английском
X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder resulting in cerebral demyelination, axonal dysfunction in the spinal cord leading to spastic paraplegia, adrenal insufficiency and in some cases testicular insufficiency.
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Usage of x-ald in английском
1
Although different X-ALD phenotypes are recognized, little is known about their evolution.
2
However, the mechanisms underlying the brain damage in X-ALD are poorly known.
3
It is therefore proposed that oxidative stress may be involved in pathophysiology of X-ALD.
4
In this review we report a detailed analysis of all 406 X-ALD mutations currently included in the database.
5
Diagnostic tests should be offered to all at-risk relatives of X-ALD patients and should include members of the extended family.
6
Objective: The purpose of this study was to determine the long-term sensitivity and specificity of MRSI for disease progression in X-ALD.
7
At least half of patients with X-ALD are adults with somewhat milder manifestations, and women who are carriers may become symptomatic.
8
Here, we present a 7-year-old boy who presented with symptoms of inattention and hyperactivity and later turned out to be a case of X-ALD.
9
In addition, we review the various X-ALD phenotypes, the different diagnostic tools, and the need for extended family screening for the identification of new patients.
10
Since most X-ALD kindreds have a unique mutation, a great number of mutations have been identified in the ABCD1 gene in the last seven years.
11
Evaluation of the therapy of X-linked adrenoleukodystrophy (X-ALD) is hampered by its rarity and by the striking and unpredictable variation in phenotypic expression.
12
Retrospectively, 129 men with X-ALD were studied who were 1) at least 20 years presently or at the time of death, and 2) regularly monitored.
Translations for x-ald
русский
португальский
испанский