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.

Volltext

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

Volltext

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

Volltext

The Braden Q+P: A Pediatric Perioperative Pressure Ulcer Risk Assessment and Intervention Tool von Galvin, Patricia A., Curley, Martha A.Q.

Volltext

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

Volltext

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

Volltext

Impact of Frailty on Healthcare Outcomes after Cardioembolic Ischaemic Stroke Due to Atrial Fibrillation von O'Caoimh, Rónán, Morrison, Laura, Hanley, Marion, McManus, Caoimhe, Donlon, Kate, Galvin, Patricia

Volltext

123 Empowering Patients after Stroke: Development of a Stroke Information Booklet von Dennehy, Karen, Synnott, Padraig, Murphy, Robert, Galvin, Patricia, Canavan, Michelle, Walsh, Thomas, O' Donnell, Martin

Volltext

Cultivating quality: reducing surgical site infections in children undergoing cardiac surgery von Galvin, Patricia

Volltext

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

Volltext

CULTIVATING Quality: Reducing Surgical Site Infections in Children Undergoing Cardiac Surgery: A nurse-led initiative at one hospital has dramatic results von Galvin, Patricia

Volltext

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

Volltext

Reducing Surgical Site Infections in Children Undergoing Cardiac Surgery von Galvin, Patricia

Volltext

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

Volltext

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

Volltext

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

Volltext

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

Volltext

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

Volltext

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

Volltext

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.

Volltext