Usage of "x-ald" | TermGallery

русский

португальский

испанский

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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Похожие термины

rare disease

адренолейкодистрофия

Синонимы

Examples for "ald"

Poorly formed aggregates and reduced levels of spores were apparent in the DZ2 aldA mutant, even after prolonged development. 
 Pubmed 

These data indicate that DMSP-ald is an intermediate in DMSP biosynthesis and that the other three compounds are not. 
 Pubmed 

Although different X-ALD phenotypes are recognized, little is known about their evolution. 
 Pubmed 

However, the mechanisms underlying the brain damage in X-ALD are poorly known. 
 Pubmed 

Watch the ALD descend into the belly of the Rosalind Franklin rover. 
 BBC 

The childhood-onset cerebral form of adrenoleukodystrophy has a devastating neurologic prognosis. 
 Pubmed 

A young male patient with adrenoleukodystrophy progressed from the frontal to the parieto-occipital region was reported. 
 Pubmed 

Background and purpose: Outcomes following hematopoietic stem cell transplantation for higher risk childhood-onset cerebral adrenoleukodystrophy are variable. 
 Pubmed 

X-linked adrenoleukodystrophy is a neurodegenerative disorder affecting the myelin of the nervous system and the adrenal cortex. 
 Pubmed 

Conclusions: Gadolinium enhancement intensity on brain MR imaging can be scored simply and reproducibly for cerebral adrenoleukodystrophy. 
 Pubmed 

Multislice proton MRSI may be a suitable technique for the prediction of lesion progression on MRI in X-linked adrenoleukodystrophy. 
 Pubmed 

So far PGD has been carried out for three carrier females at risk of transmitting X-linked adrenoleukodystrophy, X-linked hydrocephalus and hemophilia A. 
 Pubmed 

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. 
 Pubmed 

X-linked adrenoleukodystrophy is a neurodegenerative disorder affecting the myelin of the nervous system and the adrenal cortex. 
 Pubmed 

Technically known as X-linked ALD, it affects boys, typically starting in childhood and killing them in two to three years. 
 Wired 

Pathologic explanation of the roentgenographically identified diffuse sclerosis in ES has not been previously well documented in the medical literature. 
 Pubmed 

Использование термина x-ald на английском

Although different X-ALD phenotypes are recognized, little is known about their evolution. 
 Pubmed 

However, the mechanisms underlying the brain damage in X-ALD are poorly known. 
 Pubmed 

It is therefore proposed that oxidative stress may be involved in pathophysiology of X-ALD. 
 Pubmed 

In this review we report a detailed analysis of all 406 X-ALD mutations currently included in the database. 
 Pubmed 

Diagnostic tests should be offered to all at-risk relatives of X-ALD patients and should include members of the extended family. 
 Pubmed 

Objective: The purpose of this study was to determine the long-term sensitivity and specificity of MRSI for disease progression in X-ALD. 
 Pubmed 

At least half of patients with X-ALD are adults with somewhat milder manifestations, and women who are carriers may become symptomatic. 
 Pubmed 

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. 
 Pubmed 

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. 
 Pubmed 

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. 
 Pubmed 

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. 
 Pubmed 

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. 
 Pubmed 

Translations for x-ald

русский

адренолейкодистрофия алд

португальский

adrenoleucodistrofia ald

испанский

adrenoleucodistrofia ald

Язык интерфейса

Значения термина x-ald на английском