Current Strategies in the Management of Lysosomal Storage Diseases von Heese, Bryce A., MA, MD

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Insurance denials and diagnostic rates in a pediatric genomic research cohort von Zion, Tricia N., Berrios, Courtney D., Cohen, Ana S.A., Bartik, Lauren, Cross, Laura A., Engleman, Kendra L., Fleming, Emily A., Gadea, Randi N., Hughes, Susan S., Jenkins, Janda L., Kussmann, Jennifer, Lawson, Caitlin, Schwager, Caitlin, Strenk, Meghan E., Welsh, Holly, Rush, Eric T., Amudhavalli, Shivarajan M., Sullivan, Bonnie R., Zhou, Dihong, Gannon, Jennifer L., Heese, Bryce A., Moore, Riley, Boillat, Emelia, Biswell, Rebecca L., Louiselle, Daniel A., Puckett, Laura M.B., Beyer, Shanna, Neal, Shelby H., Sierant, Victoria, McBeth, Macy, Belden, Bradley, Walter, Adam M., Gibson, Margaret, Cheung, Warren A., Johnston, Jeffrey J., Thiffault, Isabelle, Farrow, Emily G., Grundberg, Elin, Pastinen, Tomi

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Early childhood onset of high-grade atrioventricular block in Hunter syndrome von Chlebowski, Meghan M, Heese, Bryce A, Malloy-Walton, Lindsey E

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Pathogenic variants in KPTN gene identified by Clinical Whole-Genome Sequencing von Thiffault, Isabelle, Atherton, Andrea, Heese, Bryce A, Abdelmoity, Ahmed, Pawar, Kailash, Farrow, Emily, Zellmer, Lee, Miller, Neil, Soden, Sarah, Saunders, Carol

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Expanded newborn screening identifies maternal primary carnitine deficiency von Schimmenti, Lisa A., Crombez, Eric A., Schwahn, Bernd C., Heese, Bryce A., Wood, Timothy C., Schroer, Richard J., Bentler, Kristi, Cederbaum, Stephen, Sarafoglou, Kiki, McCann, Mark, Rinaldo, Piero, Matern, Dietrich, di San Filippo, Cristina Amat, Pasquali, Marzia, Berry, Susan A., Longo, Nicola

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Long-term safety and efficacy of sapropterin: The PKUDOS registry experience von Longo, Nicola, Arnold, Georgianne L., Pridjian, Gabriella, Enns, Gregory M., Ficicioglu, Can, Parker, Susan, Cohen-Pfeffer, Jessica L.

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Genomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes von Cohen, Ana S.A., Farrow, Emily G., Abdelmoity, Ahmed T., Alaimo, Joseph T., Amudhavalli, Shivarajan M., Anderson, John T., Bansal, Lalit, Bartik, Lauren, Baybayan, Primo, Belden, Bradley, Berrios, Courtney D., Biswell, Rebecca L., Buczkowicz, Pawel, Buske, Orion, Chakraborty, Shreyasee, Cheung, Warren A., Coffman, Keith A., Cooper, Ashley M., Cross, Laura A., Curran, Tom, Dang, Thuy Tien T., Elfrink, Mary M., Engleman, Kendra L., Fecske, Erin D., Fieser, Cynthia, Fitzgerald, Keely, Fleming, Emily A., Gadea, Randi N., Gannon, Jennifer L., Gelineau-Morel, Rose N., Gibson, Margaret, Goldstein, Jeffrey, Grundberg, Elin, Halpin, Kelsee, Harvey, Brian S., Heese, Bryce A., Hein, Wendy, Herd, Suzanne M., Hughes, Susan S., Ilyas, Mohammed, Jacobson, Jill, Jenkins, Janda L., Jiang, Shao, Johnston, Jeffrey J., Keeler, Kathryn, Korlach, Jonas, Kussmann, Jennifer, Lambert, Christine, Lawson, Caitlin, Le Pichon, Jean-Baptiste, Leeder, James Steven, Little, Vicki C., Louiselle, Daniel A., Lypka, Michael, McDonald, Brittany D., Miller, Neil, Modrcin, Ann, Nair, Annapoorna, Neal, Shelby H., Oermann, Christopher M., Pacicca, Donna M., Pawar, Kailash, Posey, Nyshele L., Price, Nigel, Puckett, Laura M.B., Quezada, Julio F., Raje, Nikita, Rowell, William J., Rush, Eric T., Sampath, Venkatesh, Saunders, Carol J., Schwager, Caitlin, Schwend, Richard M., Shaffer, Elizabeth, Smail, Craig, Soden, Sarah, Strenk, Meghan E., Sullivan, Bonnie R., Sweeney, Brooke R., Tam-Williams, Jade B., Walter, Adam M., Welsh, Holly, Wenger, Aaron M., Willig, Laurel K., Yan, Yun, Younger, Scott T., Zhou, Dihong, Zion, Tricia N., Thiffault, Isabelle, Pastinen, Tomi

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Initial symptom presentation in young pediatric patients with classic pathogenic variants in the gene: Data from the Fabry MOPPet study von Laney, Dawn A., Houde, Morgan F., Foley, Allison, Peck, Dawn S., Atherton, Andrea M., Toler, Tomi L., Manwaring, Linda, Nimmons, Keirsa, Grange, Dorothy K., Kidwell, Christine, Heese, Bryce A., Holida, Myrl D., Auray-Blais, Christiane

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Initial symptom presentation in young pediatric patients with classic pathogenic variants in the GLA gene: Data from the Fabry MOPPet study von Laney, Dawn A., Houde, Morgan F., Foley, Allison, Peck, Dawn S., Atherton, Andrea M., Toler, Tomi L., Manwaring, Linda, Nimmons, Keirsa, Grange, Dorothy K., Kidwell, Christine, Heese, Bryce A., Holida, Myrl D., Auray-Blais, Christiane

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Newborn screening for Fabry disease: Is the A143T allele a pathogenic mutation or a pseudodeficiency allele? von Atherton, Andrea M., Doheny, Dana, Peck, Dawn, Christensen, Katherine, Smith, Kayla, Manwaring, Linda, Kiesling, Jami, Hillman, Richard, Font-Montgomery, Esperanza, Shinawi, Marwan, Grange, Dorothy K., Desnick, Robert J., Heese, Bryce A.

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The first two years of full population pilot newborn screening for lysosomal disorders: The Missouri experience von Atherton, Andrea M., Peck, Dawn, Christensen, Katherine, Smith, Kayla, Manwaring, Linda, Hopkins, Patrick, Rogers, Sharmini, Kiesling, Jami, Font-Montgomery, Esperanza, Hillman, Richard, Braddock, Stephen, Shinawi, Marwan, Grange, Dorothy K., Heese, Bryce A.

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Data for: Biochemical signatures mimicking multiple carboxylase deficiency in children with mutations in MT-ATP6 von Larson, Austin

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Quantification of Free Carnitine and Acylcarnitines in Plasma or Serum Using HPLC/MS/MS von Scott, David, Heese, Bryce, Garg, Uttam

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The G78D variant in IDUA – a potential hypomorphic variant not associated with severe MPS I von Peck, Dawn, Hall, Patricia, Hamm, J. Austin, Gadea, Randi, Heese, Bryce, Lasio, Maria Laura Duque, Manwaring, Linda, Pino, Gisele, Studinski, April, White, Amy, Gavrilov, Dimitar, Matern, Dietrich, Oglesbee, Devin, Schultz, Matthew, Tortorelli, Silvia

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Delayed diagnosis of holocarboxylase synthetase deficiency in three patients with prominent skin findings von Cadieux-Dion, Maxime, Gannon, Jennifer, Newell, Brandon, Nopper, Amy Jo, Jenkins, Janda, Heese, Bryce, Saunders, Carol

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The role of biomarkers for the follow up of infants with positive newborn screening results for Fabry disease von Pino, Gisele, Studinski, April, White, Amy, Peck, Dawn, Minnich, Sara, Gadea, Randi, Strenk, Meghan, Gannon, Jennifer, Heese, Bryce, Font-Montgomery, Esperanza, Hamm, Austin, Dennis, Anna, Viall, Sarah, Gavrilov, Dimitar, Tortorelli, Silvia, Oglesbee, Devin, Rinaldo, Piero, Matern, Dietrich, Raymond, Kimiyo

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eP033 - Improving the performance of newborn screening for mucopolysaccharidosis type II with second tier biomarker testing von Peck, Dawn, White, Amy, Pino, Gisele, Studinski, April, Strenk, Meghan, Gadea, Randi, Gannon, Jennifer, Heese, Bryce, Font-Montgomery, Esperanza, Klug, Tracy, Burton, Jennifer, Hoganson, George, Oglesbee, Devin, Gavrilov, Dimitar, Matern, Dietrich, Raymond, Kimiyo, Rinaldo, Piero, Tortorelli, Silvia

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Improving the performance of newborn screening for mucopolysaccharidosis type II with second tier biomarker testing von Peck, Dawn, White, Amy, Pino, Gisele, Studinski, April, Strenk, Meghan, Gadea, Randi, Gannon, Jennifer, Heese, Bryce, Font-Montgomery, Esperanza, Klug, Tracy, Burton, Jennifer, Hoganson, George, Oglesbee, Devin, Gavrilov, Dimitar, Matern, Dietrich, Raymond, Kimiyo, Rinaldo, Piero, Tortorelli, Silvia

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eP028 - The role of biomarkers for the follow up of infants with positive newborn screening results for Fabry disease von Pino, Gisele, Studinski, April, White, Amy, Peck, Dawn, Minnich, Sara, Gadea, Randi, Strenk, Meghan, Gannon, Jennifer, Heese, Bryce, Font-Montgomery, Esperanza, Hamm, Austin, Dennis, Anna, Viall, Sarah, Gavrilov, Dimitar, Tortorelli, Silvia, Oglesbee, Devin, Rinaldo, Piero, Matern, Dietrich, Raymond, Kimiyo

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Tandem Mass Spectrometry for the Analysis of Plasma/Serum Acylcarnitines for the Diagnosis of Certain Organic Acidurias and Fatty Acid Oxidation Disorders von Scott, David, Clinton Frazee, C., Heese, Bryce, Garg, Uttam

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