Disease characteristics, effectiveness, and safety of vestronidase alfa for the treatment of patients with mucopolysaccharidosis VII in a novel, longitudinal, multicenter disease m... von Giugliani, Roberto, Gonzalez-Meneses, Antonio, Scarpa, Maurizio, Burton, Barbara, Wang, Raymond, Martins, Esmeralda, Oussoren, Esmeralda, Hennermann, Julia B, Chabrol, Brigitte, Grant, Christina L, Sun, Angela, Durand, Consuelo, Hetzer, Joel, Malkus, Betsy, Marsden, Deborah, Merritt Ii, J Lawrence

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Next-generation sequencing for mitochondrial diseases: A wide diagnostic spectrum von Vasta, Valeria, Merritt II, J Lawrence, Saneto, Russell P., Hahn, Si Houn

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Long-term Burosumab Administration Is Safe and Effective in Adults With X-linked Hypophosphatemia von Weber, Thomas J, Imel, Erik A, Carpenter, Thomas O, Peacock, Munro, Portale, Anthony A, Hetzer, Joel, Merritt, J Lawrence, Insogna, Karl

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Fatty acid oxidation disorders von Merritt, 2nd, J Lawrence, Norris, Marie, Kanungo, Shibani

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Orphan drugs in development for long-chain fatty acid oxidation disorders: challenges and progress von Sun, Angela, Merritt, II, J. Lawrence

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Impact of burosumab on lower limb alignment in children with X-linked hypophosphatemia von Frumberg, David B., Merritt, J. Lawrence, Chen, Angel, Carpenter, Thomas O.

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De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features von Mullegama, Sureni V., Kiernan, Kaitlyn A., Torti, Erin, Pavlovsky, Ethan, Tilton, Nicholas, Sekula, Austin, Gao, Hua, Alaimo, Joseph T., Engleman, Kendra, Rush, Eric T., Blocker, Karli, Dipple, Katrina M., Fettig, Veronica M., Hare, Heather, Glass, Ian, Grange, Dorothy K., Griffin, Michael, Phornphutkul, Chanika, Massingham, Lauren, Mehta, Lakshmi, Miller, Danny E., Thies, Jenny, Merritt, J Lawrence, Muller, Eric, Osmond, Matthew, Sawyer, Sarah L., Slaugh, Rachel, Hickey, Rachel E., Wolf, Barry, Choudhary, Sanjeev, Simonović, Miljan, Zhang, Yueqing, Palculict, Timothy Blake, Telegrafi, Aida, Carere, Deanna Alexis, Wentzensen, Ingrid M., Morrow, Michelle M., Monaghan, Kristin G., Yang, Jun, Juusola, Jane

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P261: Vestronidase alfa for the treatment of mucopolysaccharidosis VII (MPS VII): Updated results from a longitudinal, multicenter disease monitoring program (DMP) von Giugliani, Roberto, Gonzalez-Meneses, Antonio, Grant, Christina, Scarpa, Maurizio, Sun, Angela, Wang, Raymond, Burton, Barbara, van der Ploeg, Ans, Martins, Esmeralda, Durand, Consuelo, Chabrol, Brigitte, Hetzer, Joel, Marsden, Deborah, Merritt, J. Lawrence

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P189: Vestronidase alfa for the treatment of mucopolysaccharidosis VII (MPS VII): Updated results from a novel, longitudinal, multicenter disease monitoring program von Giugliani, Roberto, Gonzalez-Meneses, Antonio, Grant, Christina, Scarpa, Maurizio, Sun, Angela, Wang, Raymond, Hetzer, Joel, Marsden, Deborah, Merritt, J. Lawrence

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P438: Clinical RNA sequencing to clarify variants of uncertain significance and identify missing variants von Cech, Jennifer, Miller, Danny, Paschal, Cate, Dingmann, Bri, Scott, Anna, Thies, Jenny, Mills, Maria, Merritt, J. Lawrence, Mirzaa, Ghayda, Bennett, James, Glass, Ian, Sternen, Darci, Mefford, Heather

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Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined nonketotic hyperglycinemia and lipoate deficiency von Arribas-Carreira, Laura, Dallabona, Cristina, Swanson, Michael A, Farris, Joseph, Østergaard, Elsebet, Tsiakas, Konstantinos, Hempel, Maja, Aquaviva-Bourdain, Cecile, Koutsoukos, Stefanos, Stence, Nicholas V, Magistrati, Martina, Spector, Elaine B, Kronquist, Kathryn, Christensen, Mette, Karstensen, Helena G, Feichtinger, René G, Achleitner, Melanie T, Lawrence Merritt II, J, Pérez, Belén, Ugarte, Magdalena, Grünewald, Stephanie, Riela, Anthony R, Julve, Natalia, Arnoux, Jean-Baptiste, Haldar, Kasturi, Donnini, Claudia, Santer, René, Lund, Allan M, Mayr, Johannes A, Rodriguez-Pombo, Pilar, Van Hove, Johan L K

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OR13-2 Characterizing the Impact of Burosumab on Bone Health in Children with X-Linked Hypophosphatemia: Results from Year 1 of the Disease Monitoring Program von Carpenter, Thomas, Cassinelli, Hamilton, Glorieux, Francis, Hetzer, Joel, Merritt II, J Lawrence, Moreira, Carolina A, Portale, Anthony, Ward, Leanne, Woo, Claudine, Imel, Erik

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OR13-1 Long-Term Burosumab Therapy Provides Sustained Benefit in Patients with Tumor-Induced Osteomalacia: End of Study Findings From the Pivotal Phase 2 Study von Carpenter, Thomas, Cimms, Tricia, Hetzer, Joel, Insogna, Karl, Kumar, Rajiv, Merritt II, J Lawrence, Miller, Paul, Peacock, Munro, Rauch, Frank, Stanciu, Irinel, Weber, Thomas, Jan De Beur, Suzanne

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Newborn screening and renal disease: where we have been; where we are now; where we are going von Merritt, J. Lawrence, Askenazi, David, Hahn, Si Houn

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Asymptomatic methylmalonic acidemia in a homozygous MUT mutation (p.P86L) von Underhill, Hunter R, Hahn, Si Houn, Hale, Susan L, Merritt, J Lawrence

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108. In Vitro Down-Regulation of Transgene Expression with Cre/loxP Mediated Recombination von Ii, J Lawrence Merritt, Daniels, Jan, Schowalter, David B

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Delineation of the cryptic 1qter deletion phenotype von Merritt, J. Lawrence, Zou, Ying, Jalal, Syed M., Michels, Virginia V.

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Extensive acrochordons and pancreatic islet‐cell tumors in tuberous sclerosis associated with TSC2 mutations von Merritt, J. Lawrence, Davis, Dawn Marie R., Pittelkow, Mark R., Babovic‐Vuksanovic, Dusica

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A cognitively normal PDH‐deficient 18‐year‐old man carrying the R263G mutation in the PDHA1 gene von Bachmann‐Gagescu, Ruxandra, Merritt II, J Lawrence, Hahn, S H

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14q32.3 deletion syndrome with autism von Merritt II, J. Lawrence, Jalal, Syed M., Barbaresi, William J., Babovic-Vuksanovic, Dusica

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