Discovery of a new biomarker for the mucopolysaccharidoses (MPS), dipeptidyl peptidase IV (DPP-IV; CD26), by SELDI-TOF mass spectrometry von Beesley, Clare E., Young, Elisabeth P., Finnegan, Niamh, Jackson, Marie, Mills, Kevin, Vellodi, Ashok, Cleary, Maureen, Winchester, Bryan G.

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Prenatal Diagnosis of Lysosomal Storage Diseases von Lake, Brian D, Young, Elisabeth P, Winchester, Bryan G

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Mutational analysis of 85 mucopolysaccharidosis type I families : frequency of known mutations, identification of 17 novel mutations and in vitro expression of missense mutations von BEESLEY, Clare E, MEANEY, Cathy A, GREENLAND, Gavin, ADAMS, Vanessa, VELLODI, Ashok, YOUNG, Elisabeth P, WINCHESTER, Bryan G

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Mutational analysis of Sanfilippo syndrome type A (MPS IIIA): identification of 13 novel mutations von BEESLEY, CLARE E, YOUNG, ELISABETH P, VELLODI, ASHOK, WINCHESTER, BRYAN G

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Identification of 12 novel mutations in the alpha-N-acetylglucosaminidase gene in 14 patients with Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB) von Beesley, C E, Young, E P, Vellodi, A, Winchester, B G

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Molecular analysis of patients with β-glucuronidase deficiency presenting as hydrops fetalis or as early mucopolysaccharidosis VII von VERVOORT, R, RAFIQUL ISLAM, M, SLY, W. S, ZABOT, M.-T, KLEIJER, W. J, CHABAS, A, FENSOM, A, YOUNG, E. P, LIEBAERS, I, LISSENS, W

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Exclusion of late infantile neuronal ceroid lipofuscinosis (LINCL) in a fetus by assay of tripeptidyl peptidase I in chorionic villi von Young, Elisabeth P., Winchester, Bryan G., Peter Logan, W., Wheeler, Ruth B., Lake, Brian D.

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Deficiency of Acid Esterase Activity in Wolman's Disease von Young, Elisabeth P., Patrick, A. D.

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Pre- and postnatal diagnosis of patients with CLN1 and CLN2 by assay of palmitoyl protein thioesterase and tripeptidyl peptidase I activities von Young, Elisabeth P., Worthington, Viki C., Jackson, Marie, Winchester, Bryan G.

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Pre- and postnatal diagnosis of patients withCLN1 and CLN2 by assay of palmitoyl protein thioesterase and tripeptidyl peptidase I activities von Young, Elisabeth P., Worthington, Viki C., Jackson, Marie, Winchester, Bryan G.

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Gut Lesions in Fabry's Disease Without a Rash von Flynn, D. M., Lake, B. D., Boothby, C. B., Young, Elisabeth P.

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A high performance liquid chromatography method for the analysis of 35S-cystine: Application to the diagnosis of cystinosis von Hall, Nicholas A., Young, Elisabeth P.

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Prenatal tests for Sanfilippo disease type B in four pregnancies von Mossman, Jean, Young, Elisabeth P., Patrick, A. D., Fensom, A. H., Ellis, Marie, Benson, P. P., Der Kaloustian, V. M.

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Tay-sachs disease and related disorders: Fractionation of brain N-acetyl-β-hexosaminidase on DEAE-cellulose von Young, Elisabeth P., Ellis, R.B., Lake, B.D., Patrick, A.D.

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Ultra‐rare sarcomas: A consensus paper from the Connective Tissue Oncology Society community of experts on the incidence threshold and the list of entities von Stacchiotti, Silvia, Frezza, Anna Maria, Blay, Jean‐Yves, Baldini, Elizabeth H., Bonvalot, Sylvie, Bovée, Judith V. M. G., Callegaro, Dario, Casali, Paolo G., Chiang, RuRu Chun‐ju, Demetri, George D., Demicco, Elisabeth G., Desai, Jayesh, Eriksson, Mikael, Gelderblom, Hans, George, Suzanne, Gounder, Mrinal M., Gronchi, Alessandro, Gupta, Abha, Haas, Rick L., Hayes‐Jardon, Andrea, Hohenberger, Peter, Jones, Kevin B., Jones, Robin L., Kasper, Bernd, Kawai, Akira, Kirsch, David G., Kleinerman, Eugene S., Le Cesne, Axel, Lim, Jiwon, Chirlaque López, María Dolores, Maestro, Roberta, Marcos‐Gragera, Rafael, Martin Broto, Javier, Matsuda, Tomohiro, Mir, Olivier, Patel, Shreyaskumar R., Raut, Chandrajit P., Razak, Albiruni R. A., Reed, Damon R., Rutkowski, Piotr, Sanfilippo, Roberta G., Sbaraglia, Marta, Schaefer, Inga‐Marie, Strauss, Dirk C., Sundby Hall, Kirsten, Tap, William D., Thomas, David M., Graaf, Winette T. A., Houdt, Winan J., Visser, Otto, Mehren, Margaret, Wagner, Andrew J., Wilky, Breelyn A., Won, Young‐Joo, Fletcher, Christopher D. M., Dei Tos, Angelo P., Trama, Annalisa

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Mass spectrometry captures off-target drug binding and provides mechanistic insights into the human metalloprotease ZMPSTE24 von Mehmood, Shahid, Marcoux, Julien, Gault, Joseph, Quigley, Andrew, Michaelis, Susan, Young, Stephen G., Carpenter, Elisabeth P., Robinson, Carol V.

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Atenolol versus Losartan in Children and Young Adults with Marfan's Syndrome von Lacro, Ronald V, Dietz, Harry C, Sleeper, Lynn A, Yetman, Anji T, Bradley, Timothy J, Colan, Steven D, Pearson, Gail D, Selamet Tierney, E. Seda, Levine, Jami C, Atz, Andrew M, Benson, D. Woodrow, Braverman, Alan C, Chen, Shan, De Backer, Julie, Gelb, Bruce D, Grossfeld, Paul D, Klein, Gloria L, Lai, Wyman W, Liou, Aimee, Loeys, Bart L, Markham, Larry W, Olson, Aaron K, Paridon, Stephen M, Pemberton, Victoria L, Pierpont, Mary Ella, Pyeritz, Reed E, Radojewski, Elizabeth, Roman, Mary J, Sharkey, Angela M, Stylianou, Mario P, Wechsler, Stephanie Burns, Young, Luciana T, Mahony, Lynn

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Leucine-rich repeat containing 8A (LRRC8A) is essential for T lymphocyte development and function von Kumar, Lalit, Chou, Janet, Yee, Christina S K, Borzutzky, Arturo, Vollmann, Elisabeth H, von Andrian, Ulrich H, Park, Shin-Young, Hollander, Georg, Manis, John P, Poliani, P Luigi, Geha, Raif S

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Dulaglutide Alone and in Combination with Empagliflozin Attenuate Inflammatory Pathways and Microbiome Dysbiosis in a Non-Diabetic Mouse Model of NASH von Hupa-Breier, Katharina Luise, Dywicki, Janine, Hartleben, Bjoern, Wellhoener, Freya, Heidrich, Benjamin, Taubert, Richard, Mederacke, Young-Seon Elisabeth, Lieber, Maren, Iordanidis, Konstantinos, Manns, Michael P., Wedemeyer, Heiner, Hardtke-Wolenski, Matthias, Jaeckel, Elmar

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Cystic Fibrosis Foundation consensus guidelines for the care of individuals with advanced cystic fibrosis lung disease von Kapnadak, Siddhartha G., Dimango, Emily, Hadjiliadis, Denis, Hempstead, Sarah E., Tallarico, Erin, Pilewski, Joseph M., Faro, Albert, Albright, James, Benden, Christian, Blair, Shaina, Dellon, Elisabeth P., Gochenour, Daniel, Michelson, Peter, Moshiree, Baharak, Neuringer, Isabel, Riedy, Carl, Schindler, Teresa, Singer, Lianne G., Young, Dave, Vignola, Lauren, Zukosky, Joan, Simon, Richard H.

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