Prenatal diagnosis of a trisomy 17p derived from a de novo non-mosaic satellited marker by Kulharya, Anita S, Garcia-Heras, Jaime, Radtke, Heather B, Norris, Karen S, Keppen, Laura D, Flannery, David B

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New syndrome of spondylospinal thoracic dysostosis with multiple pterygia and arthrogryposis by Johnson, Virginia P., Keppen, Laura D., Carpenter, Mary S., Randall, Brad B., Newby, Paul E.

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Long-term follow-up of endurance and safety outcomes during enzyme replacement therapy for mucopolysaccharidosis VI: Final results of three clinical studies of recombinant human N-... by Harmatz, Paul, Giugliani, Roberto, D. Schwartz, Ida Vanessa, Guffon, Nathalie, Teles, Elisa Leão, Miranda, M. Clara Sá, Wraith, J. Edmond, Beck, Michael, Arash, Laila, Scarpa, Maurizio, Ketteridge, David, Hopwood, John J., Plecko, Barbara, Steiner, Robert, Whitley, Chester B., Kaplan, Paige, Yu, Zi-Fan, Swiedler, Stuart J., Decker, Celeste

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Design, baseline characteristics, and early findings of the MPS VI (mucopolysaccharidosis VI) Clinical Surveillance Program (CSP) by Hendriksz, Christian J., Giugliani, Roberto, Harmatz, Paul, Lampe, Christina, Martins, Ana Maria, Pastores, Gregory M., Steiner, Robert D., Leão Teles, Elisa, Valayannopoulos, Vassili

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Enzyme replacement therapy for mucopolysaccharidosis VI: long-term cardiac effects of galsulfase (Naglazyme®) therapy by Braunlin, E., Rosenfeld, H., Kampmann, C., Johnson, J., Beck, M., Giugliani, R., Guffon, N., Ketteridge, D., Sá Miranda, C. M., Scarpa, M., Schwartz, I. V., Leão Teles, E., Wraith, J. E., Barrios, P., Dias da Silva, E., Kurio, G., Richardson, M., Gildengorin, G., Hopwood, J. J., Imperiale, M., Schatz, A., Decker, C., Harmatz, P.

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Correction: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder by Shieh, Christine, Jones, Natasha, Vanle, Brigitte, Au, Margaret, Huang, Alden Y., Silva, Ana P.G., Lee, Hane, Douine, Emilie D., Otero, Maria G., Choi, Andrew, Grand, Katheryn, Taff, Ingrid P., Delgado, Mauricio R., Hajianpour, M.J., Seeley, Andrea, Rohena, Luis, Vernon, Hilary, Gripp, Karen W., Vergano, Samantha A., Mahida, Sonal, Naidu, Sakkubai, Sousa, Ana Berta, Wain, Karen E., Challman, Thomas D., Beek, Geoffrey, Basel, Donald, Ranells, Judith, Smith, Rosemarie, Yusupov, Roman, Freckmann, Mary-Louise, Ohden, Lisa, Davis-Keppen, Laura, Chitayat, David, Dowling, James J., Finkel, Richard, Dauber, Andrew, Spillmann, Rebecca, Pena, Loren D.M., Metcalfe, Kay, Splitt, Miranda, Lachlan, Katherine, McKee, Shane A., Hurst, Jane, Fitzpatrick, David R., Morton, Jenny E.V., Cox, Helen, Venkateswaran, Sunita, Young, Juan I., Marsh, Eric D., Nelson, Stanley F., Martinez, Julian A., Graham, John M., Kini, Usha, Mackay, Joel P., Pierson, Tyler Mark

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221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative by Bentler, Kristi, Zhai, Shaohui, Elsbecker, Sara A., Arnold, Georgianne L., Burton, Barbara K., Vockley, Jerry, Cameron, Cynthia A., Hiner, Sally J., Edick, Mathew J., Berry, Susan A., Thomas, Janet, Dodge, Melinda, Singh, Rani, Lakshman, Sangeetha, Coakley, Katie, Stembridge, Adrya, Russi, Alvaro Serrano, Phillips, Emily, Burton, Barbara, Edano, Clare, Shrestha, Sheela, Hoganson, George, Dwyer, Lauren, Hainline, Bryan, Romie, Susan, Hainline, Sarah, Asamoah, Alexander, Goodin, Kara, Rajakaruna, Cecilia, Jackson, Kelly, Hamosh, Ada, Vernon, Hilary, Smith, Nancy, Ahmad, Ayesha, Lipinski, Sue, Feldman, Gerald, Berry, Susan, Elsbecker, Sara, Bentler, Kristi, Font-Montgomery, Esperanza, Peck, Dawn, Pena, Loren D.M., Koeberl, Dwight D., Jiang, Yong-hui, Kishnani, Priya S., Rizzo, William, Dawson, Machelle, Ambrose, Nancy, Levy, Paul, Kronn, David, Fong, Chin-to, D’Aco, Kristin, Hart, Theresa, Erbe, Richard, Samons, Melissa, Leslie, Nancy, Powers, Racheal, Bartholomew, Dennis, Goff, Melanie, vanCalcar, Sandy, Hansen, Joyanna, Arnold, Georgianne, Vockley, Jerry, Walsh-Vockley, Cate, Rhead, William, Dimmock, David, Engelking, Paula, Bird, Cassie, Swan, Ashley, Schwoerer, Jessica Scott, Henry, Sonja, Narumanchi, TaraChandra, Hummel, Marybeth, Wilkins, Jennie, Davis-Keppen, Laura, Stein, Quinn, Loman, Rebecca, Cameron, Cynthia, Edick, Mathew J., Hiner, Sally J., Justice, Kaitlin, Zhai, Shaohui

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Development of a newborn screening follow-up algorithm for the diagnosis of isobutyryl-CoA dehydrogenase deficiency by Oglesbee, Devin, He, Miao, Majumder, Nilanjana, Vockley, Jerry, Ahmad, Ayesha, Angle, Brad, Burton, Barbara, Charrow, Joel, Ensenauer, Regina, Ficicioglu, Can H, Keppen, Laura Davis, Marsden, Deborah, Tortorelli, Silvia, Hahn, Si Houn, Matern, Dietrich

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Prenatally diagnosed trisomy 20 mosaicism associated with arachnoid cyst of basal cistern by Stein, Quinn P., Boyle, Jeffrey G., Crotwell, Patricia L., Flanagan, Jason D., Johnson, Kiley J., Davis-Keppen, Laura, Van Eerden, Peter, Woltanski, Amelia R., Watson, William J.

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Marshall-Smith syndrome: Natural history and evidence of an osteochondrodysplasia with connective tissue abnormalities by Adam, Margaret P., Hennekam, Raoul C.M., Keppen, Laura Davis, Bull, Marilyn J., Clericuzio, Carol L., Burke, Leah W., Ormond, Kelly E., Hoyme, Eugene H.

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Treatment of Smith-Lemli-Opitz syndrome: Results of a multicenter trial by Irons, Mira, Elias, Ellen R., Abuelo, Diane, Bull, Marilyn J., Greene, Carol L., Johnson, Virginia P., Keppen, Laura, Schanen, Carolyn, Tint, G. Stephen, Salen, Gerald

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Prenatally diagnosed trisomy 20 mosaicism associated with arachnoid cyst of basal cistern by Stein, Quinn P, Boyle, Jeffrey G, Crotwell, Patricia L, Flanagan, Jason D, Johnson, Kiley J, Davis-Keppen, Laura, Van Eerden, Peter, Woltanski, Amelia R, Watson, William J

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