Search Results - "Naylor, E.W."

Maternal screening for hypothyroidism and thyroiditis using filter paper specimens by Foley, Jr, T P, Henry, J J, Hofman, L F, Thomas, R D, Sanfilippo, J S, Naylor, E W

“…Hypothyroidism and autoimmune thyroiditis are more prevalent than previously considered in women during pregnancy and the postpartum, and are associated with…”
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3-Methylcrotonyl-coenzyme A carboxylase deficiency in Amish/Mennonite adults identified by detection of increased acylcarnitines in blood spots of their children by Gibson, K.M., Bennett, M.J., Naylor, E.W., Morton, D.H.

“…Isolated 3-methylcrotonyl coenzyme A carboxylase (MCC) deficiency was documented in four adult women from the Amish/Mennonite population of Lancaster County,…”
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Assays for thyroid-stimulating hormone using dried blood spotted filter paper specimens to screen for hypothyroidism in older children and adults by Hofman, L F, Foley, Jr, T P, Henry, J J, Naylor, E W

“…Symptoms of hypothyroidism in adults can be mistaken for medical and psychiatric diseases, as well as for general signs of ageing such as weakness, lethargy…”
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Mutation in the 4a-carbinolamine dehydratase gene leads to mild hyperphenylalaninemia with defective cofactor metabolism by CITRON, B. A, KAUFMAN, S, MILSTIEN, S, NAYLOR, E. W, GREENE, C. L, DAVIS, M. D

“…Hyperphenylalaninemias represent a major class of inherited metabolic disorders. They are most often caused by mutations in the phenylalanine hydroxylase gene…”
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Neonatal screening for cystic fibrosis: addition of molecular diagnostics to increase specificity by Spence, W C, Paulus-Thomas, J, Orenstein, D M, Naylor, E W

“…Newborn screening for cystic fibrosis (CF) has been carried out on approximately 106,000 neonates in western Pennsylvania since 1987 using the immunoreactive…”
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