Search Results - "Korson, M. S."

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 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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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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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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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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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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Bilateral infantile cataractogenesis in a patient with deficiency of complex I, a mitochondrial electron transport chain enzyme by Ciulla, T A, North, K, McCabe, O, Anthony, D C, Korson, M S, Petersen, R A

“…Progressive bilateral cataracts developed in infancy in a 5-month-old girl with deficiency of complex I, a mitochondrial electron transport chain enzyme. In…”
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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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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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Neonatal-onset propionic acidemia: Neurologic and developmental profiles, and implications for management by North, Kathryn N., Korson, Mark S., Gopal, Yasodha R., Rohr, Frances J., Brazelton, T.Berry, Waisbren, Susan E., Warman, Matthew L.

“…Objectives: To document the clinical and neurodevelopmental profiles of a cohort of patients with neonatal-onset propionic acidemia and to determine the…”
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Pitfalls in Diagnosing Galactosemia: False Negative Newborn Screening Following Red Blood Cell Transfusion by Korson, Mark S, Levy, Harvey L

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The new commitment law by Korson, S M

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Evolution of a state mental hospital from custodial care to intensive psychiatric treatment center by Korson, S M

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