Deficient activity of alanyl‐tRNA synthetase underlies an autosomal recessive syndrome of progressive microcephaly, hypomyelination, and epileptic encephalopathy von Nakayama, Tojo, Wu, Jiang, Galvin‐Parton, Patricia, Weiss, Jody, Andriola, Mary R., Hill, R. Sean, Vaughan, Dylan J., El‐Quessny, Malak, Barry, Brenda J., Partlow, Jennifer N., Barkovich, A. James, Ling, Jiqiang, Mochida, Ganeshwaran H.

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Prospective identification by neonatal screening of patients with guanidinoacetate methyltransferase deficiency von Hart, Kim, Rohrwasser, Andreas, Wallis, Heidi, Golsan, Heather, Shao, Jianyin, Anderson, Taylor, Wang, Xiaoli, Szabo-Fresnais, Nicolas, Morrissey, Mark, Kay, Denise M., Wojcik, Matthew, Galvin-Parton, Patricia A., Longo, Nicola, Caggana, Michele, Pasquali, Marzia

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P399: Terminal 7q deletion: How does inferior cerebellar vermis hypoplasia translate to pathology in a clinical setting? von Aggarwal, Priya, Galvin-Parton, Patricia

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Newborn screening for Krabbe disease in New York State: the first eight years’ experience von Orsini, Joseph J., Kay, Denise M., Saavedra-Matiz, Carlos A., Wenger, David A., Duffner, Patricia K., Erbe, Richard W., Biski, Chad, Martin, Monica, Krein, Lea M., Nichols, Matthew, Kurtzberg, Joanne, Escolar, Maria L., Adams, Darius J., Arnold, Georgianne L., Iglesias, Alejandro, Galvin-Parton, Patricia, Kronn, David F., Kwon, Jennifer M., Levy, Paul A., Pellegrino, Joan E., Shur, Natasha, Wasserstein, Melissa P., Caggana, Michele

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Lack of genotype–phenotype correlations and outcome in MCAD deficiency diagnosed by newborn screening in New York State von Arnold, Georgianne L., Saavedra-Matiz, Carlos A., Galvin-Parton, Patricia A., Erbe, Richard, DeVincentis, Ellen, Kronn, David, Mofidi, Shideh, Wasserstein, Melissa, Pellegrino, Joan E., Levy, Paul A., Adams, Darius J., Nichols, Matthew, Caggana, Michele

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Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East von Chiara Manzini, M, Gleason, Danielle, Chang, Bernard S, Sean Hill, R, Barry, Brenda J, Partlow, Jennifer N, Poduri, Annapurna, Currier, Sophie, Galvin-Parton, Patricia, Shapiro, Lawrence R, Schmidt, Karen, Davis, Jessica G, Basel-Vanagaite, Lina, Seidahmed, Mohamed Z, Salih, Mustafa A.M, Dobyns, William B, Walsh, Christopher A

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Genotypic differences of MCAD deficiency in the Asian population: Novel genotype and clinical symptoms preceding newborn screening notification von Ensenauer, Regina, Winters, Jennifer L., Parton, Patricia A., Kronn, David F., Kim, Jong-Won, Matern, Dietrich, Rinaldo, Piero, Hahn, Si Houn

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QT prolongation: a key finding in metabolic hypoglycemia von Carson, Mallory, Esper, Brecken, Tafuri, Kimberly, Lane, Andrew, Fox, Charlene, Weiss, Jody, Galvin-Parton, Patricia

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eP285 - QT prolongation: a key finding in metabolic hypoglycemia von Carson, Mallory, Esper, Brecken, Tafuri, Kimberly, Lane, Andrew, Fox, Charlene, Weiss, Jody, Galvin-Parton, Patricia

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High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correla... von Rojnueangnit, Kitiwan, Xie, Jing, Gomes, Alicia, Sharp, Angela, Callens, Tom, Chen, Yunjia, Liu, Ying, Cochran, Meagan, Abbott, Mary-Alice, Atkin, Joan, Babovic-Vuksanovic, Dusica, Barnett, Christopher P., Crenshaw, Melissa, Bartholomew, Dennis W., Basel, Lina, Bellus, Gary, Ben-Shachar, Shay, Bialer, Martin G., Bick, David, Blumberg, Bruce, Cortes, Fanny, David, Karen L., Destree, Anne, Duat-Rodriguez, Anna, Earl, Dawn, Escobar, Luis, Eswara, Marthanda, Ezquieta, Begona, Frayling, Ian M., Frydman, Moshe, Gardner, Kathy, Gripp, Karen W., Hernández-Chico, Concepcion, Heyrman, Kurt, Ibrahim, Jennifer, Janssens, Sandra, Keena, Beth A, Llano-Rivas, Isabel, Leppig, Kathy, McDonald, Marie, Misra, Vinod K., Mulbury, Jennifer, Narayanan, Vinodh, Orenstein, Naama, Galvin-Parton, Patricia, Pedro, Helio, Pivnick, Eniko K., Powell, Cynthia M., Randolph, Linda, Raskin, Salmo, Rosell, Jordi, Rubin, Karol, Seashore, Margretta, Schaaf, Christian P., Scheuerle, Angela, Schultz, Meredith, Schorry, Elizabeth, Schnur, Rhonda, Siqveland, Elizabeth, Tkachuk, Amanda, Tonsgard, James, Upadhyaya, Meena, Verma, Ishwar C., Wallace, Stephanie, Williams, Charles, Zackai, Elaine, Zonana, Jonathan, Lazaro, Conxi, Claes, Kathleen, Korf, Bruce, Martin, Yolanda, Legius, Eric, Messiaen, Ludwine

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Clinical outcomes of children with abnormal newborn screening results for Krabbe disease in New York State von Wasserstein, Melissa P., Andriola, Mary, Arnold, Georgianne, Aron, Alan, Duffner, Patricia, Erbe, Richard W., Escolar, Maria L., Estrella, Lissette, Galvin-Parton, Patricia, Iglesias, Alejandro, Kay, Denise M., Kronn, David F., Kurtzberg, Joanne, Kwon, Jennifer M., Langan, Thomas J., Levy, Paul A., Naidich, Thomas P., Orsini, Joseph J., Pellegrino, Joan E., Provenzale, James M., Wenger, David A., Caggana, Michele

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Screening for GALC to make neonatal diagnosis and initial neonatal stem cell treatment with umbilical cord blood von Galvin-Parton, Patricia A.

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Continuous Glucose Monitoring in the Management of Hypoglycemia in TANGO2 von Esper, Brecken S, Carson, Mallory, Galvin-Parton, Patricia, Lane, Andrew H, Tafuri, Kimberly S

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Deficient activity of alanyl-tRNA synthetase underlies an autosomal recessive syndrome of progressive microcephaly, hypomyelination, and epileptic encephalopathy: NAKAYAMA et al von Nakayama, Tojo, Wu, Jiang, Galvin-Parton, Patricia, Weiss, Jody, Andriola, Mary R., Hill, R. Sean, Vaughan, Dylan J., El-Quessny, Malak, Barry, Brenda J., Partlow, Jennifer N., Barkovich, A. James, Ling, Jiqiang, Mochida, Ganeshwaran H.

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Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848 von Koczkowska, Magdalena, Chen, Yunjia, Callens, Tom, Gomes, Alicia, Sharp, Angela, Johnson, Sherrell, Hsiao, Meng-Chang, Chen, Zhenbin, Balasubramanian, Meena, Barnett, Christopher P, Becker, Troy A, Ben-Shachar, Shay, Bertola, Debora R, Blakeley, Jaishri O, Burkitt-Wright, Emma M.M, Callaway, Alison, Crenshaw, Melissa, Cunha, Karin S, Cunningham, Mitch, D'Agostino, Maria D, Dahan, Karin, De Luca, Alessandro, Destrée, Anne, Dhamija, Radhika, Eoli, Marica, Evans, D. Gareth R, Galvin-Parton, Patricia, George-Abraham, Jaya K, Gripp, Karen W, Guevara-Campos, Jose, Hanchard, Neil A, Hernández-Chico, Concepcion, Immken, LaDonna, Janssens, Sandra, Jones, Kristi J, Keena, Beth A, Kochhar, Aaina, Liebelt, Jan, Martir-Negron, Arelis, Mahoney, Maurice J, Maystadt, Isabelle, McDougall, Carey, McEntagart, Meriel, Mendelsohn, Nancy, Miller, David T, Mortier, Geert, Morton, Jenny, Pappas, John, Plotkin, Scott R, Pond, Dinel, Rosenbaum, Kenneth, Rubin, Karol, Russell, Laura, Rutledge, Lane S, Saletti, Veronica, Schonberg, Rhonda, Schreiber, Allison, Seidel, Meredith, Siqveland, Elizabeth, Stockton, David W, Trevisson, Eva, Ullrich, Nicole J, Upadhyaya, Meena, van Minkelen, Rick, Verhelst, Helene, Wallace, Margaret R, Yap, Yoon-Sim, Zackai, Elaine, Zonana, Jonathan, Zurcher, Vickie, Claes, Kathleen, Martin, Yolanda, Korf, Bruce R, Legius, Eric, Messiaen, Ludwine

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Genotype-phenotype correlation in NF1 : evidence for a more severe phenotype associated with missense mutations affecting NF1 codons 844–848 von Koczkowska, Magdalena, Chen, Yunjia, Callens, Tom, Gomes, Alicia, Sharp, Angela, Johnson, Sherrell, Hsiao, Meng-Chang, Chen, Zhenbin, Balasubramanian, Meena, Barnett, Christopher P, Becker, Troy A, Ben-Shachar, Shay, Bertola, Debora R, Blakeley, Jaishri O, Burkitt-Wright, Emma MM, Callaway, Alison, Crenshaw, Melissa, Cunha, Karin S, Cunningham, Mitch, D’Agostino, Maria D, Dahan, Karin, De Luca, Alessandro, Destrée, Anne, Dhamija, Radhika, Eoli, Marica, Evans, D Gareth R, Galvin-Parton, Patricia, George-Abraham, Jaya K, Gripp, Karen W, Guevara-Campos, Jose, Hanchard, Neil A, Hernández-Chico, Concepcion, Immken, LaDonna, Janssens, Sandra, Jones, Kristi J, Keena, Beth A, Kochhar, Aaina, Liebelt, Jan, Martir-Negron, Arelis, Mahoney, Maurice J, Maystadt, Isabelle, McDougall, Carey, McEntagart, Meriel, Mendelsohn, Nancy, Miller, David T, Mortier, Geert, Morton, Jenny, Pappas, John, Plotkin, Scott R, Pond, Dinel, Rosenbaum, Kenneth, Rubin, Karol, Russell, Laura, Rutledge, Lane S, Saletti, Veronica, Schonberg, Rhonda, Schreiber, Allison, Seidel, Meredith, Siqveland, Elizabeth, Stockton, David W, Trevisson, Eva, Ullrich, Nicole J, Upadhyaya, Meena, van Minkelen, Rick, Verhelst, Helene, Wallace, Margaret R, Yap, Yoon-Sim, Zackai, Elaine, Zonana, Jonathan, Zurcher, Vickie, Claes, Kathleen, Martin, Yolanda, Korf, Bruce R, Legius, Eric, Messiaen, Ludwine M

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High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correla... von Rojnueangnit, Kitiwan, Xie, Jing, Gomes, Alicia, Sharp, Angela, Callens, Tom, Chen, Yunjia, Liu, Ying, Cochran, Meagan, Abbott, Mary-Alice, Atkin, Joan, Babovic-Vuksanovic, Dusica, Barnett, Christopher P, Crenshaw, Melissa, Bartholomew, Dennis W, Basel, Lina, Bellus, Gary, Ben-Shachar, Shay, Bialer, Martin G, Bick, David, Blumberg, Bruce, Cortes, Fanny, David, Karen L, Destree, Anne, Duat-Rodriguez, Anna, Earl, Dawn, Escobar, Luis, Eswara, Marthanda, Ezquieta, Begona, Frayling, Ian M, Frydman, Moshe, Gardner, Kathy, Gripp, Karen W, Hernandez-Chico, Concepcion, Heyrman, Kurt, Ibrahim, Jennifer, Janssens, Sandra, Keena, Beth A, Llano-Rivas, Isabel, Leppig, Kathy, McDonald, Marie, Misra, Vinod K, Mulbury, Jennifer, Narayanan, Vinodh, Orenstein, Naama, Galvin-Parton, Patricia, Pedro, Helio, Pivnick, Eniko K, Powell, Cynthia M, Randolph, Linda, Raskin, Salmo, Rosell, Jordi, Rubin, Karol, Seashore, Margretta, Schaaf, Christian P, Scheuerle, Angela, Schultz, Meredith, Schorry, Elizabeth, Schnur, Rhonda, Siqveland, Elizabeth, Tkachuk, Amanda, Tonsgard, James, Upadhyaya, Meena, Verma, Ishwar C, Wallace, Stephanie, Williams, Charles, Zackai, Elaine, Zonana, Jonathan, Lazaro, Conxi, Claes, Kathleen, Korf, Bruce, Martin, Yolanda, Legius, Eric, Messiaen, Ludwine

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High incidence of Noonan syndrome features including short stature and pulmonic stenosis in patients carrying NF1 missense mutations affecting p.Arg1809: genotype-phenotype correla... von Rojnueangnit, Kitiwan, Xie, Jing, Gomes, Alicia, Sharp, Angela, Callens, Tom, Chen, Yunjia, Liu, Ying, Cochran, Meagan, Abbott, Mary-Alice, Atkin, Joan, Babovic-Vuksanovic, Dusica, Barnett, Christopher P, Crenshaw, Melissa, Bartholomew, Dennis W, Basel, Lina, Bellus, Gary, Ben-Shachar, Shay, Bialer, Martin G, Bick, David, Blumberg, Bruce, Cortes, Fanny, David, Karen L, Destree, Anne, Duat-Rodriguez, Anna, Earl, Dawn, Escobar, Luis, Eswara, Marthanda, Ezquieta, Begona, Frayling, Ian M, Frydman, Moshe, Gardner, Kathy, Gripp, Karen W, Hernández-Chico, Concepcion, Heyrman, Kurt, Ibrahim, Jennifer, Janssens, Sandra, Keena, Beth A, Llano-Rivas, Isabel, Leppig, Kathy, McDonald, Marie, Misra, Vinod K, Mulbury, Jennifer, Narayanan, Vinodh, Orenstein, Naama, Galvin-Parton, Patricia, Pedro, Helio, Pivnick, Eniko K, Powell, Cynthia M, Randolph, Linda, Raskin, Salmo, Rosell, Jordi, Rubin, Karol, Seashore, Margretta, Schaaf, Christian P, Scheuerle, Angela, Schultz, Meredith, Schorry, Elizabeth, Schnur, Rhonda, Siqveland, Elizabeth, Tkachuk, Amanda, Tonsgard, James, Upadhyaya, Meena, Verma, Ishwar C, Wallace, Stephanie, Williams, Charles, Zackai, Elaine, Zonana, Jonathan, Lazaro, Conxi, Claes, Kathleen, Korf, Bruce, Martin, Yolanda, Legius, Eric, Messiaen, Ludwine

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Newborn Screening for Krabbe Disease: the New York State Model von Duffner, Patricia K., MD, Caggana, Michele, ScD, Orsini, Joseph J., PhD, Wenger, David A., PhD, Patterson, Marc C., MD, Crosley, Carl J., MD, Kurtzberg, Joanne, MD, Arnold, Georgianne L., MD, Escolar, Maria L., MD, Adams, Darius J., MD, Andriola, Mary R., MD, Aron, Alan M., MD, Ciafaloni, Emma, MD, Djukic, Alexandra, MD, Erbe, Richard W., MD, Galvin-Parton, Patricia, MD, Helton, Laura E., MD, MPH, Kolodny, Edwin H., MD, Kosofsky, Barry E., MD, Kronn, David F., MD, Kwon, Jennifer M., MD, Levy, Paul A., MD, Miller-Horn, Jill, MD, Naidich, Thomas P., MD, Pellegrino, Joan E., MD, Provenzale, James M., MD, Rothman, Stanley J., MD, Wasserstein, Melissa P., MD

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Diagnostic guidelines for newborns who screen positive in newborn screening von Kronn, David, Mofidi, Shideh, Braverman, Nancy, Harris, Katharine

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