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Значения термина bronze schilder disease на 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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Синонимы
Examples for "ald"
Examples for "ald"
1
Poorly formed aggregates and reduced levels of spores were apparent in the DZ2 aldA mutant, even after prolonged development.
2
These data indicate that DMSP-ald is an intermediate in DMSP biosynthesis and that the other three compounds are not.
3
Although different X-ALD phenotypes are recognized, little is known about their evolution.
4
However, the mechanisms underlying the brain damage in X-ALD are poorly known.
5
Watch the ALD descend into the belly of the Rosalind Franklin rover.
1
The childhood-onset cerebral form of adrenoleukodystrophy has a devastating neurologic prognosis.
2
A young male patient with adrenoleukodystrophy progressed from the frontal to the parieto-occipital region was reported.
3
Background and purpose: Outcomes following hematopoietic stem cell transplantation for higher risk childhood-onset cerebral adrenoleukodystrophy are variable.
4
X-linked adrenoleukodystrophy is a neurodegenerative disorder affecting the myelin of the nervous system and the adrenal cortex.
5
Conclusions: Gadolinium enhancement intensity on brain MR imaging can be scored simply and reproducibly for cerebral adrenoleukodystrophy.
1
Asymptomatic, adrenomyeloneuropathy and female heterozygote patients had no significant changes in cerebral perfusion.
2
Unfortunately, there is no early method of distinguishing it from the more benign forms of adrenoleukodystrophy, such as adrenomyeloneuropathy.
3
A 39-year-old male showed rapid progression of cerebral white matter involvement after 8 years' duration of adrenomyeloneuropathy.
1
Multislice proton MRSI may be a suitable technique for the prediction of lesion progression on MRI in X-linked adrenoleukodystrophy.
2
So far PGD has been carried out for three carrier females at risk of transmitting X-linked adrenoleukodystrophy, X-linked hydrocephalus and hemophilia A.
3
Magnetic resonance imaging sequences such as diffusion and spectroscopy have been well studied in X-linked adrenoleukodystrophy, but no data exist on magnetic resonance perfusion imaging.
4
X-linked adrenoleukodystrophy is a neurodegenerative disorder affecting the myelin of the nervous system and the adrenal cortex.
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.
1
Technically known as X-linked ALD, it affects boys, typically starting in childhood and killing them in two to three years.
1
Pathologic explanation of the roentgenographically identified diffuse sclerosis in ES has not been previously well documented in the medical literature.
Translations for bronze schilder disease
русский
португальский
испанский