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A second common mutation in the methylenetetrahydrofolate reductase gene: an additional risk factor for neural-tube defects?
Recently, we showed that homozygosity for the common 677(C-->T) mutation in the methylenetetrahydrofolate reductase (MTHFR) gene, causing thermolability of the enzyme, is a risk factor forExpand
A new leukoencephalopathy with vanishing white matter
We identified nine children with a leukoencephalopathy of similar type according to clinical and MRI findings. The patients included three affected sibling pairs. The age range was 3 to 19 years. TheExpand
Cerebrotendinous xanthomatosis: the spectrum of imaging findings and the correlation with neuropathologic findings.
PURPOSE To describe imaging findings and their neuropathologic correlate in patients with cerebrotendinous xanthomatosis (CTX). MATERIALS AND METHODS Computed tomographic (CT) and magneticExpand
Clinical, biochemical and molecular genetic characteristics of 19 patients with the Sjögren-Larsson syndrome.
Sjögren-Larsson syndrome (SLS) is an autosomal recessively inherited neurocutaneous disorder caused by a deficiency of the microsomal enzyme fatty aldehyde dehydrogenase (FALDH). We report theExpand
The integrated use of maximum performance tasks in differential diagnostic evaluations among children with motor speech disorders
Maximum performance tasks (MPT) were employed to quantify the speech motor capacities of children with dysarthria and developmental apraxia of speech. Specifically, several MPT (i.e. vowelExpand
MR imaging and proton MR spectroscopic studies in Sjögren-Larsson syndrome: characterization of the leukoencephalopathy.
BACKGROUND AND PURPOSE Sjögren-Larsson syndrome (SLS) is a neurocutaneous syndrome caused by a genetic enzyme deficiency in lipid metabolism. Our purpose was to characterize the nature of theExpand
Coarticulation patterns in children with developmental apraxia of speech
The aim of this study was to enhance our insight into the underlying deficit in developmental apraxia of speech (DAS). In particular, the involvement of planning and/or programming of speechExpand
Maternal occupational exposure during pregnancy and the risk of spina bifida.
OBJECTIVES: A case-control study was carried out to explore associations between spina bifida and occupational exposure of the mother. METHODS: The cases were children with spina bifida aperta bornExpand
Presence of diarrhea and absence of tendon xanthomas in patients with cerebrotendinous xanthomatosis.
BACKGROUND Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive disorder of bile acid synthesis. A diagnosis of CTX should be considered in patients with premature bilateral cataracts,Expand
Validity of maximum performance tasks to diagnose motor speech disorders in children
In a previous study a diagnostic procedure was developed to assess motoric involvement in clear cases of developmental apraxia of speech (DAS) and spastic dysarthria, as well as normal-speakingExpand
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