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The cerebrohepatorenal (Zellweger) syndrome is a fatal autosomal recessive disorder manifested in the neonatal period by profound hypotonia, psychomotor retardation, dysmorphic features, and an enlarged liver. In this study we demonstrate fivefold or greater increases of very-long-chain fatty acid levels, particularly hexacosanoic acid (C26:0) and(More)
The Cognitive Adaptive Test/Clinical Linguistic and Auditory Milestone Scale (CAT/CLAMS) was designed for use by primary pediatric health care providers to identify children with developmental delays. This study assesses the concurrent and predictive validity of CAT/CLAMS developmental quotient (DQ) scores and the Mental Developmental Index (MDI) of the(More)
The peroxisomal disorders represent a group of inherited metabolic disorders that derive from defects of peroxisomal biogenesis and/or from dysfunction of single or multiple peroxisomal enzymes. Because peroxisomes are involved in the metabolism of lipids critical to the functioning of the nervous system, many of the peroxisomal disorders manifest with(More)
OBJECTIVE To determine the influence of alpha-linolenic acid (ALA; 18 : 3omega3) intake and, hence, the influence of plasma and/or erythrocyte phospholipid content of docosahexaenoic acid (DHA; 22 : 6omega3) during early infancy on neurodevelopmental outcome of term infants. METHODS The Bayley Scales of Infant Development (second edition), the Clinical(More)
Williams syndrome is a genetic disorder linked to cognitive and behavioral patterns of varying consistency; this study was conducted to clarify further the strengths and weaknesses of children with Williams syndrome. Fifteen subjects with the characteristic features of Williams syndrome were evaluated using the Stanford-Binet Intelligence Scale for(More)
Williams syndrome is characterized by cardiac defects, varying degrees of physical and developmental delay, stellate eye pattern, possible elevated serum calcium level, and elfin/pixie facial features. A problem perhaps unique to these children is hyperacusis that can be severe enough to disrupt many routine daily activities. Parental questionnaires were(More)
Adrenoleukodystrophy (ALD) is an X-linked progressive neurological disorder characterized by the accumulation of saturated very-long-chain fatty acids (C24 to C30) in lipids, especially cholesterol esters of the brain white matter and adrenal cortex. In the present study we have investigated the localization of accumulated cholesterol esters in brain white(More)
Adrenal glands from eight patients with the cerebro-hepatorenal syndrome, a disease in which there are no morphologically demonstrable peroxisomes, were studied histologically; one of the eight was also examined ultrastructurally. Seven of the eight demonstrated striated adrenocortical cells in the inner portion of the adrenal cortex. Ultrastructural(More)