Results 171 to 180 of about 18,288 (188)
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X-linked adrenoleukodystrophy (ALD) is a peroxisomal disorder caused by mutations in the ABCD1 gene and characterized by impaired very long-chain fatty acid beta-oxidation. Clinically, male patients develop adrenal failure and progressive myelopathy in adulthood, although the age of onset and rate of progression are highly variable. In addition, 40% of
Engelen, Marc +2 more
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Engelen, Marc +2 more
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Neuropediatrics, 1984
Clinical morphological, biochemical, radiological, and neurophysiological findings in disorders characterized by storage of very long chain fatty acids are reviewed. The dynamics of clinical symptomatology and neuropathological changes are different in adrenoleukodystrophy and adrenomyeloneuropathy.
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Clinical morphological, biochemical, radiological, and neurophysiological findings in disorders characterized by storage of very long chain fatty acids are reviewed. The dynamics of clinical symptomatology and neuropathological changes are different in adrenoleukodystrophy and adrenomyeloneuropathy.
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Journal of Neuroscience Nursing, 1985
Adrenoleukodystrophy is an X-linked disorder characterized by adrenal insufficiency and progressive demyelination of the cerebral white matter. Young boys usually become symptomatic during pre- or primary school years and follow a time-variable, downhill, terminal course. Diagnostic and carrier testing and prenatal diagnosis are available.
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Adrenoleukodystrophy is an X-linked disorder characterized by adrenal insufficiency and progressive demyelination of the cerebral white matter. Young boys usually become symptomatic during pre- or primary school years and follow a time-variable, downhill, terminal course. Diagnostic and carrier testing and prenatal diagnosis are available.
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Orvosi hetilap, 1997
7-year-old boy with adrenoleukodystrophy is presented with the typical clinical picture, biochemical findings and review of the literature. The obligate carrier status of the mother and the asymptomatic adrenoleukodystrophy of the 5-year-old brother are biochemically proved.
R, Kálmánchey +4 more
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7-year-old boy with adrenoleukodystrophy is presented with the typical clinical picture, biochemical findings and review of the literature. The obligate carrier status of the mother and the asymptomatic adrenoleukodystrophy of the 5-year-old brother are biochemically proved.
R, Kálmánchey +4 more
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2006
Abstract An 11-year-old Caucasian male was referred for evaluation of deteriorating school performance and the recent onset of ataxic (i.e., wide-based and unsteady) gait. He had been previously diagnosed with attention deficit disorder and had been treated with Ritalin for the past 3 years.
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Abstract An 11-year-old Caucasian male was referred for evaluation of deteriorating school performance and the recent onset of ataxic (i.e., wide-based and unsteady) gait. He had been previously diagnosed with attention deficit disorder and had been treated with Ritalin for the past 3 years.
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RöFo - Fortschritte auf dem Gebiet der Röntgenstrahlen und der bildgebenden Verfahren, 2011
M. Fenchel +4 more
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M. Fenchel +4 more
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