Search Results - "Brewster, T. G."

The urinary excretion of glutarylcarnitine is an informative tool in the biochemical diagnosis of glutaric acidemia type I by Tortorelli, S., Hahn, S.H., Cowan, T.M., Brewster, T.G., Rinaldo, P., Matern, D.

“…Glutaric acidemia type I (GA-1) is a progressive neurodegenerative inborn error of metabolism that typically manifests acutely in infants during an…”
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Newborn screening compared to clinical identification of biochemical genetic disorders by Waisbren, S. E., Read, C. Y., Ampola, M., Brewster, T. G., Demmer, L., Greenstein, R., Ingham, C. L., Korson, M., Msall, M., Pueschel, S., Seashore, M., Shih, E., Levy, H. L.

“…A group of 28 patients with inherited metabolic disease (homocystinuria galactosaemia, maple syrup urine disease and biotinidase deficiency) diagnosed by…”
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Effect of Expanded Newborn Screening for Biochemical Genetic Disorders on Child Outcomes and Parental Stress by Waisbren, Susan E, Albers, Simone, Amato, Steve, Ampola, Mary, Brewster, Thomas G, Demmer, Laurie, Eaton, Roger B, Greenstein, Robert, Korson, Mark, Larson, Cecilia, Marsden, Deborah, Msall, Michael, Naylor, Edwin W, Pueschel, Siegfried, Seashore, Margretta, Shih, Vivian E, Levy, Harvey L

“…CONTEXT Tandem mass spectrometry now allows newborn screening for more than 20 biochemical genetic disorders. Questions about the effectiveness and risks of…”
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New England Consortium: A model for medical evaluation of expanded newborn screening with tandem mass spectrometry by Albers, S., Waisbren, S. E., Ampola, M. G., Brewster, T. G., Burke, L. W., Demmer, L. A., Filiano, J., Greenstein, R. M. G., Ingham, C. L., Korson, M. S., Marsden, D., Schwartz, R. C., Seashore, M. R., Shih, V. E., Levy, H. L.

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Efficacy and Safety of Lovastatin in Adolescent Males With Heterozygous Familial Hypercholesterolemia: A Randomized Controlled Trial by Stein, Evan A, Illingworth, D. Roger, Kwiterovich, Jr, Peter O, Liacouras, Chris A, Siimes, Martti A, Jacobson, Marc S, Brewster, Thomas G, Hopkins, Paul, Davidson, Michael, Graham, Kevin, Arensman, Frederick, Knopp, Robert H, DuJovne, Carlos, Williams, Christine L, Isaacsohn, Jonathan L, Jacobsen, Carol A, Laskarzewski, Peter M, Ames, Sharon, Gormley, Glenn J

“…CONTEXT Heterozygous familial hypercholesterolemia (HeFH) is a common disorder associated with early coronary artery disease, especially in men. The age at…”
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Dihydropteridine reductase deficiency associated with severe neurologic disease and mild hyperphenylalaninemia by Brewster, T G, Moskowitz, M A, Kaufman, S, Breslow, J L, Milstien, S, Abroms, I F

“…A deficiency of hepatic dihydropteridine reductase (DHPR) activity was found in a neurologically impaired infant with mild hyperphenylalaninemia and normal…”
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Quantitation of beta-lipoprotein in cord serum by rate nephelometric immunoassay: a potential screening test for familial hypercholesterolemia by Brewster, T G, Waite, D J, Hudson, G A

“…We measured beta-lipoprotein in 232 cord sera by rate nephelometry and compared the results with those obtained by electroimmunoassay. The mean (mean +/- two…”
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Oto-palato-digital syndrome, type II--an X-linked skeletal dysplasia by Brewster, T G, Lachman, R S, Kushner, D C, Holmes, L B, Isler, R J, Rimoin, D L

“…We report on two male infants with a lethal skeletal dysplasia characterized by cleft palate, midface hypoplasia, downward-slanting palpebral fissures, small…”
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Chromosome disorders associated with mental retardation by Brewster, T G, Gerald, P S

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