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BACKGROUND This paper summarizes the results of a group effort to bring together the worldwide available data on patients who are either homozygotes or compound heterozygotes for mutations in MAT1A. MAT1A encodes the subunit that forms two methionine adenosyltransferase isoenzymes, tetrameric MAT I and dimeric MAT III, that catalyze the conversion of(More)
Child passenger safety, a major public health concern, has been addressed by state laws mandating use of child restraint devices. Usage rates in poor and minority communities are disproportionately low. To determine the influence of the child care center within these communities to improve routine use, an educational clinical trial, based on social learning(More)
Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is an autosomal recessive disorder that leads to a defect in fatty acid oxidation. ACADM is the only candidate gene causing MCAD deficiency. A single nucleotide change, c.985A>G, occurring at exon 11 of the ACADM gene, is the most prevalent mutation. In this study, we report a Caucasian family with(More)
We have studied the functional and proliferative capacity of the T cells of systemic lupus erythematosus (SLE)-prone MRL and BXSB mice during aging. The study was performed in vivo, in the delayed-type hypersensitivity (DTH) assay, and in vitro, in the mixed lymphocyte reaction (MLR). Both assays showed depressed T cell responses in MRL/l and male BXSB mice(More)
A severely chronically protein and calorie restricted young woman with argininosuccinate lyase deficiency developed transient refeeding syndrome (RFS) and hyperammonemia after modest diet liberalization following initiation of glycerol phenylbutyrate (GPB). The patient required IV supportive care and supplementation with potassium, magnesium and calcium.(More)
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