Search Results - "Eng, C M"

Strategies for the Assessment of Matrix Effect in Quantitative Bioanalytical Methods Based on HPLC−MS/MS by Matuszewski, B. K, Constanzer, M. L, Chavez-Eng, C. M

“…In recent years, high-performance liquid chromatography (HPLC) with tandem mass spectrometric (MS/MS) detection has been demonstrated to be a powerful…”
Get full text

Multidisciplinary Management of Hunter Syndrome by Muenzer, Joseph, Beck, M, Eng, C. M, Escolar, M. L, Giugliani, R, Guffon, N. H, Harmatz, P, Kamin, W, Kampmann, C, Koseoglu, S. T, Link, B, Martin, R. A, Molter, D. W, Munoz Rojas, M. V, Ogilvie, J. W, Parini, R, Ramaswami, U, Scarpa, M, Schwartz, I. V, Wood, R. E, Wraith, E

“…Hunter syndrome is a rare, X-linked disorder caused by a deficiency of the lysosomal enzyme iduronate-2-sulfatase. In the absence of sufficient enzyme…”
Get full text

Fabry disease: Baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry by Eng, C. M., Fletcher, J., Wilcox, W. R., Waldek, S., Scott, C. R., Sillence, D. O., Breunig, F., Charrow, J., Germain, D. P., Nicholls, K., Banikazemi, M.

“…Summary The Fabry Registry is a global observational research platform established to define outcome data on the natural and treated course of this rare…”
Get full text

The morphology of the masticatory apparatus facilitates muscle force production at wide jaw gapes in tree-gouging common marmosets (Callithrix jacchus) by Eng, C M, Ward, S R, Vinyard, C J, Taylor, A B

“…Common marmosets (Callithrix jacchus) generate wide jaw gapes when gouging trees with their anterior teeth to elicit tree exudate flow. Closely related…”
Get full text

Matrix Effect in Quantitative LC/MS/MS Analyses of Biological Fluids:  A Method for Determination of Finasteride in Human Plasma at Picogram Per Milliliter Concentrations by Matuszewski, B. K, Constanzer, M. L, Chavez-Eng, C. M

“…Contrary to common perceptions, the reliability of quantitative assays for the determination of drugs in biological fluids using high-performance liquid…”
Get full text

A Phase 1/2 Clinical Trial of Enzyme Replacement in Fabry Disease: Pharmacokinetic, Substrate Clearance, and Safety Studies by Eng, Christine M., Banikazemi, Maryam, Gordon, Ronald E., Goldman, Martin, Phelps, Robert, Kim, Leona, Gass, Alan, Winston, Jonathan, Dikman, Steven, Fallon, John T., Brodie, Scott, Stacy, Charles B., Mehta, Davendra, Parsons, Rosaleen, Norton, Karen, O’Callaghan, Michael, Desnick, Robert J.

“…Fabry disease results from deficient α-galactosidase A (α-Gal A) activity and the pathologic accumulation of the globotriaosylceramide (GL-3) and related…”
Get full text

Clinical experience with non‐invasive prenatal screening for single‐gene disorders by Mohan, P., Lemoine, J., Trotter, C., Rakova, I., Billings, P., Peacock, S., Kao, C.‐Y., Wang, Y., Xia, F., Eng, C. M., Benn, P.

“…ABSTRACT Objective To assess the performance of a non‐invasive prenatal screening test (NIPT) for a panel of dominant single‐gene disorders (SGD) with a…”
Get full text

Determination of dextromethorphan and its metabolite dextrorphan in human urine using high performance liquid chromatography with atmospheric pressure chemical ionization tandem mass spectrometry: a study of selectivity of a tandem mass spectrometric assay by Constanzer, M.L., Chavez-Eng, C.M., Fu, I., Woolf, E.J., Matuszewski, B.K.

“…Analytical method for the simultaneous determination of dextromethorphan ( 1) and dextrorphan ( 2) in urine, based on solid-phase extraction of drug from…”
Get full text

Simultaneous determination of Aprepitant and two metabolites in human plasma by high-performance liquid chromatography with tandem mass spectrometric detection by Chavez-Eng, C.M., Constanzer, M.L., Matuszewski, B.K.

“…A method for the simultaneous determination of Aprepitant, I (5-[[2( R)-[1( R)-(3,5-bistrifluoromethylphenyl)ethoxy]-3( S)-(4-fluorophenyl)…”
Get full text

Determination of a novel substance P inhibitor in human plasma by high-performance liquid chromatography with atmospheric pressure chemical ionization mass spectrometric detection using single and triple quadrupole detectors by Constanzer, M.L, Chavez-Eng, C.M, Dru, J, Kline, W.F, Matuszewski, B.K

“…Methods based on high-performance liquid chromatography (HPLC) with atmospheric-pressure chemical ionization (APCI) mass spectrometric (MS) detection using…”
Get full text

Frequency and Carrier Risk Associated with Common BRCA1 and BRCA2 Mutations in Ashkenazi Jewish Breast Cancer Patients by Fodor, Flora H., Weston, Ainsley, Bleiweiss, Ira J., McCurdy, Leslie D., Walsh, Mary M., Tartter, Paul I., Brower, Steven T., Eng, Christine M.

“…Based on breast cancer families with multiple and/or early-onset cases, estimates of the lifetime risk of breast cancer in carriers of BRCA1 or BRCA2 mutations…”
Get full text

Determination of efavirenz, a selective non-nucleoside reverse transcriptase inhibitor, in human plasma using HPLC with post-column photochemical derivatization and fluorescence detection by Matthews, C.Z., Woolf, E.J., Mazenko, R.S., Haddix-Wiener, H., Chavez-Eng, C.M., Constanzer, M.L., Doss, G.A., Matuszewski, B.K.

“…Methods for the quantitative determination of efavirenz in human plasma and the qualitative assessment of the stereochemical integrity of efavirenz in…”
Get full text

High-performance liquid chromatographic–tandem mass spectrometric evaluation and determination of stable isotope labeled analogs of rofecoxib in human plasma samples from oral bioavailability studies by Chavez-Eng, C.M, Constanzer, M.L, Matuszewski, B.K

“…A method for the simultaneous determination of a cyclooxygenase-2 inhibitor, 4-(4-methanesulfonylphenyl)-3-phenyl-5H-furan-2-one (rofecoxib, I) and [ 13C…”
Get full text

Vaccine‐associated varicella and rubella infections in severe combined immunodeficiency with isolated CD4 lymphocytopenia and mutations in IL7R detected by tandem whole exome sequencing and chromosomal microarray by Bayer, D. K., Martinez, C. A., Sorte, H. S., Forbes, L. R., Demmler‐Harrison, G. J., Hanson, I. C., Pearson, N. M., Noroski, L. M., Zaki, S. R., Bellini, W. J., Leduc, M. S., Yang, Y., Eng, C. M., Patel, A., Rodningen, O. K., Muzny, D. M., Gibbs, R. A., Campbell, I. M., Shaw, C. A., Baker, M. W., Zhang, V., Lupski, J. R., Orange, J. S., Seeborg, F. O., Stray‐Pedersen, A.

“…Summary In areas without newborn screening for severe combined immunodeficiency (SCID), disease‐defining infections may lead to diagnosis, and in some cases,…”
Get full text

Fabry disease: twenty-two novel mutations in the alpha-galactosidase A gene and genotype/phenotype correlations in severely and mildly affected hemizygotes and heterozygotes by Ashton-Prolla, P, Tong, B, Shabbeer, J, Astrin, K H, Eng, C M, Desnick, R J

“…Fabry disease, an inborn error of glycosphingolipid catabolism, results from mutations in the X-chromosomal gene encoding the lysosomal exoglycosidase,…”
Get full text

Quantitation of anacetrapib, stable-isotope labeled-anacetrapib (microdose), and four metabolites in human plasma using liquid chromatography tandem mass spectrometry by Chavez-Eng, C.M., Lutz, R.W., Li, H., Goykhman, D., Bateman, K.P., Woolf, E.

“…•A sensitive and selective method for the simultaneous quantitation of anacetrapib (I) and microdosed [13C515N]-anacetrapib (II) in human plasma was developed…”
Get full text

Determination of a cyclooxygenase II inhibitor in human plasma by capillary gas chromatography with mass spectrometric detection by Dru, J.D.-Y., Chavez-Eng, C.M., Constanzer, M.L., Matuszewski, B.K.

“…Sensitive methods based on capillary gas chromatography (GC) with mass spectrometric (MS) detection in a selected-ion monitoring mode (SIM) for the…”
Get full text

A constitutive description of the anisotropic response of the fascia lata by Pancheri, F.Q., Eng, C.M., Lieberman, D.E., Biewener, A.A., Dorfmann, L.

“…In this paper we propose a constitutive model to analyze in-plane extension of goat fascia lata. We first perform a histological analysis of the fascia that…”
Get full text

Nature and frequency of mutations in the α-galactosidase A gene that cause Fabry disease by ENG, C. M, RESNICK-SILVERMAN, L. A, NIEHAUS, D. J, ASTRIN, K. H, DESNICK, R. J

“…Fabry disease, an X-linked inborn error of glycosphingolipid catabolism, results from mutations in the alpha-galactosidase A (alpha-Gal A) gene at Xq22.1. To…”
Get full text

Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease by Topaloglu, A K, Ashley, G A, Tong, B, Shabbeer, J, Astrin, K H, Eng, C M, Desnick, R J

“…Fabry disease, an X-linked inborn error of glycosphingolipid catabolism, results from the deficient activity of the lysosomal exoglycohydrolase…”
Get full text