Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency von Balasubramaniam, S., Riley, L. G., Bratkovic, D., Ketteridge, D., Manton, N., Cowley, M. J., Gayevskiy, V., Roscioli, T., Mohamed, M., Gardeitchik, T., Morava, E., Christodoulou, J.

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PS-01-011 Sexual identity, experiences and attitudes of people with developmental disabilities von Pinjatela, R., Bratkovic, D.

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Treatment of Fabry’s Disease with the Pharmacologic Chaperone Migalastat von Germain, Dominique P, Hughes, Derralynn A, Nicholls, Kathleen, Bichet, Daniel G, Giugliani, Roberto, Wilcox, William R, Feliciani, Claudio, Shankar, Suma P, Ezgu, Fatih, Amartino, Hernan, Bratkovic, Drago, Feldt-Rasmussen, Ulla, Nedd, Khan, Sharaf El Din, Usama, Lourenco, Charles M, Banikazemi, Maryam, Charrow, Joel, Dasouki, Majed, Finegold, David, Giraldo, Pilar, Goker-Alpan, Ozlem, Longo, Nicola, Scott, C. Ronald, Torra, Roser, Tuffaha, Ahmad, Jovanovic, Ana, Waldek, Stephen, Packman, Seymour, Ludington, Elizabeth, Viereck, Christopher, Kirk, John, Yu, Julie, Benjamin, Elfrida R, Johnson, Franklin, Lockhart, David J, Skuban, Nina, Castelli, Jeff, Barth, Jay, Barlow, Carrolee, Schiffmann, Raphael

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Reveglucosidase alfa (BMN 701), a GILT-tagged recombinant human acid alpha glucosidase (rhGAA), evaluation in late-onset Pompe disease: Preliminary clinical efficacy and safety res... von Hiwot, T, Barohn, R, Bratkovic, D, Byrne, B, Desnuelle, C, Hughes, D, Laforêt, P, Mengel, E, Roberts, M, Yang, K, Heusner, C, Dummer, W

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Familial 22q11.2 duplication: a three-generation family with a 3-Mb duplication and a familial 1.5-Mb duplication von Yu, S, Cox, K, Friend, K, Smith, S, Buchheim, R, Bain, S, Liebelt, J, Thompson, E, Bratkovic, D

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20947. ANÁLISIS DEL TAMAÑO DEL EFECTO DE CIPAGLUCOSIDASA ALFA MÁS MIGLUSTAT FRENTE A ALGLUCOSIDASA-ALFA EN ADULTOS CON ENFERMEDAD DE POMPE DE INICIO TARDÍO PRETRATADOS CON TERAPIA... von Aguinaga-Barrilero, A., Alonso Pérez, J., Bratkovic, D., Byrne, B., Claeys, K., Clemens, P., Díaz Manera, J., Dimachkie, M., Kishnani, P., Kushlaf, H., Roberts, M., Toscano, A., Castelli, J., Holdbrook, F., Sitaraman Das, S., Mozaffar, T., Schoser, B.

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Tango 2 Case Series: Cardiac Manifestations von Jardine, K., Robertson, T., Kava, M., Bratkovic, D., Stanley, F.

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P373 Effect size analysis of cipaglucosidase alfa + miglustat versus alglucosidase alfa in ERT-experienced adults with late-onset Pompe disease in PROPEL von Diaz-Manera, J., Bratkovic, D., Byrne, B., Claeys, K., Dimachkie, M., Kushlaf, H., Kishnani, P., Laforêt, P., Mozaffar, T., Roberts, M., Toscano, A., Castelli, J., Raza, S., Holdbrook, F., Das, S Sitaraman, Wasfi, Y., Schoser, B.

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O21 104-week efficacy and safety of cipaglucosidase alfa+miglustat in patients with late-onset Pompe disease previously treated with alglucosidase alfa von Mozaffar, T., Bratkovic, D., Byrne, B., Claeys, K., Díaz-Manera, J., Kishnani, P., Laforêt, P., Roberts, M., Toscano, A., Castelli, J., Goldman, M., Jiang, H., Das, S Sitaraman, Wasfi, Y., Schoser, B.

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FP.17 Long-term follow-up of cipaglucosidase alfa/miglustat in ambulatory patients with Pompe disease: An open-label phase I/II study (ATB200-02) von Schoser, B., Kishnani, P., Bratkovic, D., Clemens, P., Goker-Alpan, O., Ming, X., Roberts, M., Vorgerd, M., Sivakumar, K., van der Ploeg, A., Goldman, M., Wright, J., Holdbrook, F., Jain, V., Sitaraman, S., Wasfi, Y., Mozaffar, T., Byrne, B.

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Detection of treatable neonatal liver disease by expanded newborn screening von Mackay, R. J., Bratkovic, D., Couper, R., Davidson, G. P., Fahy, R., Fletcher, J. M., Ranieri, E.

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POMPE DISEASE von Schoser, B., Bratkovic, D., Byrne, B., Díaz-Manera, J., Laforet, P., Mozaffar, T., van der Ploeg, A., Roberts, M., Toscano, A., Jiang, H., Sitaraman, S., Kuchipudi, S., Goldman, M., Castelli, J., Kishnani, P.

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POMPE DISEASE: EP.196 Cipaglucosidase alfa-miglustat versus alglucosidase alfa-placebo in late-onset Pompe disease (LOPD): PROPEL study subgroup analyses von Schoser, B., Bratkovic, D., Byrne, B., Díaz-Manera, J., Laforet, P., Mozaffar, T., van der Ploeg, A., Roberts, M., Toscano, A., Jiang, H., Sitaraman, S., Kuchipudi, S., Goldman, M., Castelli, J., Kishnani, P.

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Phenotype and genotype in 101 males with X-linked creatine transporter deficiency von van de Kamp, J M, Betsalel, O T, Mercimek-Mahmutoglu, S, Abulhoul, L, Grünewald, S, Anselm, I, Azzouz, H, Bratkovic, D, de Brouwer, A, Hamel, B, Kleefstra, T, Yntema, H, Campistol, J, Vilaseca, M A, Cheillan, D, D’Hooghe, M, Diogo, L, Garcia, P, Valongo, C, Fonseca, M, Frints, S, Wilcken, B, von der Haar, S, Meijers-Heijboer, H E, Hofstede, F, Johnson, D, Kant, S G, Lion-Francois, L, Pitelet, G, Longo, N, Maat-Kievit, J A, Monteiro, J P, Munnich, A, Muntau, A C, Nassogne, M C, Osaka, H, Ounap, K, Pinard, J M, Quijano-Roy, S, Poggenburg, I, Poplawski, N, Abdul-Rahman, O, Ribes, A, Arias, A, Yaplito-Lee, J, Schulze, A, Schwartz, C E, Schwenger, S, Soares, G, Sznajer, Y, Valayannopoulos, V, Van Esch, H, Waltz, S, Wamelink, M M C, Pouwels, P J W, Errami, A, van der Knaap, M S, Jakobs, C, Mancini, G M, Salomons, G S

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A 1q44 deletion, paternal UPD of chromosome 2 and a deletion due to a complex translocation detected in children with abnormal phenotypes using new SNP array technology von Talseth-Palmer, B.A., Bowden, N.A., Meldrum, C., Nicholl, J., Thompson, E., Friend, K., Liebelt, J., Bratkovic, D., Haan, E., Yu, S., Scott, R.J.

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PRECLINICAL APPROACHES AND EARLY CLINICAL RESULTS: O.22First-in-human study of ATB200/AT2221 in patients with Pompe disease: 24-month functional assessment results from the ATB200-... von Schoser, B., Kishnani, P., Bratkovic, D., Byrne, B., Clemens, P., Goker-Alpan, O., Ming, X., Roberts, M., Schwenkreis, P., Sivakumar, K., van der Ploeg, A., Sitaraman, S., Barth, J., Lagast, H., Mozaffar, T.

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PRECLINICAL APPROACHES AND EARLY CLINICAL RESULTS von Schoser, B., Kishnani, P., Bratkovic, D., Byrne, B., Clemens, P., Goker-Alpan, O., Ming, X., Roberts, M., Schwenkreis, P., Sivakumar, K., van der Ploeg, A., Sitaraman, S., Barth, J., Lagast, H., Mozaffar, T.

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Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency von Balasubramaniam, S, Riley, L.G, Bratkovic, D, Ketteridge, D, Manton, N, Cowley, M.J, Gayevskiy, V, Roscioli, T, Mohamed, M, Gardeitchik, T, Morava, Eva, Christodoulou, J

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NEW THERAPEUTIC APPROACHES AND THEIR READOUT von Schoser, B., Bratkovic, D., Byrne, B., Clemens, P., Geberhiwot, T., Goker-Alpan, O., Kishnani, P., Ming, X., Mozaffar, T., Schwenkreis, P., Sivakumar, K., van der Ploeg, A., Wright, J., Johnson, F., Sitaraman, S., Barth, J., Sathe, S., Roberts, M.

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NEW THERAPEUTIC APPROACHES AND THEIR READOUT: O.20Results from ATB200-02: first-in-human, open-label, phase 1/2 study of ATB200 co-administered with AT2221 for Pompe disease von Schoser, B., Bratkovic, D., Byrne, B., Clemens, P., Geberhiwot, T., Goker-Alpan, O., Kishnani, P., Ming, X., Mozaffar, T., Schwenkreis, P., Sivakumar, K., van der Ploeg, A., Wright, J., Johnson, F., Sitaraman, S., Barth, J., Sathe, S., Roberts, M.

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