Search Results - "Korson, M"

Urinary phenylacetylglutamine as dosing biomarker for patients with urea cycle disorders by Mokhtarani, M., Diaz, G.A., Rhead, W., Lichter-Konecki, U., Bartley, J., Feigenbaum, A., Longo, N., Berquist, W., Berry, S.A., Gallagher, R., Bartholomew, D., Harding, C.O., Korson, M.S., McCandless, S.E., Smith, W., Vockley, J., Bart, S., Kronn, D., Zori, R., Cederbaum, S., Dorrani, N., Merritt, J.L., Sreenath-Nagamani, Sandesh, Summar, M., LeMons, C., Dickinson, K., Coakley, D.F., Moors, T.L., Lee, B., Scharschmidt, B.F.

“…We have analyzed pharmacokinetic data for glycerol phenylbutyrate (also GT4P or HPN-100) and sodium phenylbutyrate with respect to possible dosing biomarkers…”
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Reversal of severe hypertrophic cardiomyopathy and excellent neuropsychologic outcome in very-long-chain acyl-coenzyme A dehydrogenase deficiency by Cox, Gerald F., Souri, Masayoshi, Aoyama, Toshifumi, Rockenmacher, Sol, Varvogli, Liza, Rohr, Frances, Hashimoto, Takashi, Korson, Mark S.

“…Very-long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency is a disorder of fatty acid β oxidation that reportedly has high rates of morbidity and…”
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Clinical approach to genetic cardiomyopathy in children by SCHWARTZ, M. L, COX, G. F, LIN, A. E, KORSON, M. S, PEREZ-ATAYDE, A, LACRO, R. V, LIPSHULTZ, S. E

“…Cardiomyopathy (CM) remains one of the leading cardiac causes of death in children, although in the majority of cases, the cause is unknown. To have an impact…”
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A GC/MS/MS screening method for multiple organic acidemias from urine specimens by Hagen, Thilo, Korson, Mark S., Sakamoto, Masayuki, Evans, James E.

“…A gas chromatography tandem mass spectrometry method using an ion trap GC/MS system was developed to quickly screen urine samples for 14 organic acids…”
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A missense mutation (1278T) in the cystathionine β-synthase gene prevalent in pyridoxine-responsive homocystinuria and associated with mild clinical phenotype by SHIH, V. E, FRINGER, J. M, MANDELL, R, KRAUS, J. P, BERRY, G. T, HEIDENREICH, R. A, KORSON, M. S, LEVY, H. L, RAMESH, V

“…Cystathionine beta-synthase (CBS) deficiency is an autosomal recessive disorder characterized by homocystinuria and multisystem clinical disease. Patients…”
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Lethal neonatal deficiency of carnitine palmitoyltransferase II associated with dysgenesis of the brain and kidneys by North, Kathryn N., Hoppel, Charles L., De Girolami, Umberto, Kozakewich, Harry P.W., Korson, Mark S.

“…We describe neonatal onset of a lethal multiorgan deficiency of carnitine palmitoyltransferase II (CPT II) associated with dysmorphic features, cardiomyopathy,…”
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Infantile phosphofructokinase deficiency with arthrogryposis: Clinical benefit of a ketogenic diet by Swoboda, Kathryn J., Specht, Linda, Jones, H.Royden, Shapiro, Frederic, DiMauro, Salvatore, Korson, Mark

“…We report a 2-year-old boy with phosphofructokinase deficiency presenting in the newborn period with congenital arthrogryposis and severe myopathy, who has had…”
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Oxidative phosphorylation defect associated with primary adrenal insufficiency by North, Kathryn, Korson, Mark S., Krawiecki, Nicolas, Shoffner, John M., Holm, Ingrid A.

“…An 18-month-old girl with an oxidative phosphorylation defect had neonatal onset of chronic lactic acidosis, lipid storage myopathy, bilateral cataracts, and…”
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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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Perioperative white matter degeneration and death in a patient with a defect in mitochondrial oxidative phosphorylation by CASTA, A, QUACKENBUSH, E. J, HOUCK, C. S, KORSON, M. S

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Advances in newborn screening for metabolic disorders: what the pediatrician needs to know by Korson, M S

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Quantification of glutaric acid by isotope dilution mass spectrometry for patients with glutaric acidemia type I: selected ion monitoring vs. selected ion storage by Hagen, Thilo, Korson, Mark S.

“…An isotope dilution mass spectrometric assay for the quantification of glutaric acid in urine and serum samples was developed. The performance of a quadrupole…”
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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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The 8993 mtDNA mutation: heteroplasmy and clinical presentation in three families by Tatuch, Y, Pagon, R A, Vlcek, B, Roberts, R, Korson, M, Robinson, B H

“…The point mutation at bp 8993 of human mtDNA in the ATPase 6 gene is associated with neurogenic weakness, ataxia and retinitis pigmentosa, and with subacute…”
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Quality of Life Assessment in Adults with Type 1 Gaucher Disease by Bruce J. Masek, Katherine B. Sims, Catherine M. Bove, Mark S. Korson, Priscilla Short, Norman, Dennis K.

“…The effect of enzyme replacement therapy on health-related quality of life in 25 adults with type 1 Gaucher disease was investigated over a 2-year period…”
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Inadequate laboratory technique for amino acid analysis resulting in missed diagnoses of homocystinuria by Smith, K L, Bradley, L, Levy, H L, Korson, M S

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Tyrosine supplementation in phenylketonuria: Diurnal blood tyrosine levels and presumptive brain influx of tyrosine and other large neutral amino acids by Kalsner, Louisa R., Rohr, Frances J., Strauss, Kevin A., Korson, Mark S., Levy, Harvey L.

“…Tyrosine supplementation has not consistently been found to improve neuropsychologic function in phenylketonuria (PKU), possibly because of failure to achieve…”
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Urinary Lactate Excretion to Monitor the Efficacy of Treatment of Type I Glycogen Storage Disease by Hagen, Thilo, Korson, Mark S., Wolfsdorf, Joseph I.

“…The purpose of this study was to investigate the usefulness of urinary lactate measurements to assess the adequacy of dietary treatment in patients with type I…”
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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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Cardiac mitochondrial dysfunction in Leigh syndrome by Marin-Garcia, J, Ananthakrishnan, R, Korson, M, Goldenthal, M J, Perez-Atayde, A

“…An infant with Leigh syndrome and associated cardiomyopathy is described. Abnormal activities of mitochondrial respiratory complexes III and V and a change in…”
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