Morquio B Disease. Disease Characteristics and Treatment Options of a Distinct GLB1-Related Dysostosis Multiplex

por Yuskiv, Nataliya, Higaki, Katsumi, Stockler-Ipsiroglu, Sylvia
Publicado 2020

Morquio‐B disease: Clinical and genetic characteristics of a distinct GLB1‐related dysostosis multiplex

por Abumansour, Iman S., Yuskiv, Nataliya, Paschke, Eduard, Stockler‐Ipsiroglu, Sylvia
Publicado 2019

Dietary management and growth outcomes in children with propionic acidemia: A natural history study

por Saleemani, Haneen, Egri, Csilla, Horvath, Gabriella, Stockler‐Ipsiroglu, Sylvia, Elango, Rajavel
Publicado 2021

Morquio B patient/caregiver survey: First insight into the natural course of a rare GLB1 related condition()

por Bleier, Maria, Yuskiv, Nataliya, Priest, Tina, Moisa Popurs, Marioara Angela, Stockler-Ipsiroglu, Sylvia
Publicado 2018

Treatable inborn errors of metabolism presenting as cerebral palsy mimics: systematic literature review

por Leach, Emma L, Shevell, Michael, Bowden, Kristin, Stockler-Ipsiroglu, Sylvia, van Karnebeek, Clara DM
Publicado 2014

Developments in evidence creation for treatments of inborn errors of metabolism

por Stockler‐Ipsiroglu, Sylvia, Potter, Beth K., Yuskiv, Nataliya, Tingley, Kylie, Patterson, Marc, van Karnebeek, Clara
Publicado 2020

Nervensystem

por Boltshauser, E., Kaindl, A. M., Ipsiroglu, O., Krägeloh-Mann, I., Rostásy, K., Schöning, M., Stöckler-Ipsiroglu, S., Krauß, J., Schweitzer, T.
Publicado 2019

Using a meta-narrative literature review and focus groups with key stakeholders to identify perceived challenges and solutions for generating robust evidence on the effectiveness o...

por Tingley, Kylie, Coyle, Doug, Graham, Ian D., Sikora, Lindsey, Chakraborty, Pranesh, Wilson, Kumanan, Mitchell, John J., Stockler-Ipsiroglu, Sylvia, Potter, Beth K.
Publicado 2018

Congenital lactic acidosis, cerebral cysts and pulmonary hypertension in an infant with FOXRED1 related complex I deficiency

por Apatean, Delia, Rakic, Bojana, Brunel-Guitton, Catherine, Hendson, Glenda, Bai, Renkui, Sargent, Michael A., Lavoie, Pascal M., Patel, Millan, Stockler-Ipsiroglu, Sylvia
Publicado 2019

Congenital lactic acidosis, cerebral cysts and pulmonary hypertension in an infant with FOXRED1 related complex 1 deficiency

por Apatean, Delia, Rakic, Bojana, Brunel-Guitton, Catherine, Hendson, Glenda, Bai, Renkui, Sargent, Michael A., Lavoie, Pascal M., Patel, Millan, Stockler-Ipsiroglu, Sylvia
Publicado 2019

Treatable inherited metabolic disorders causing intellectual disability: 2021 review and digital app

por Hoytema van Konijnenburg, Eva M. M., Wortmann, Saskia B., Koelewijn, Marina J., Tseng, Laura A., Houben, Roderick, Stöckler-Ipsiroglu, Sylvia, Ferreira, Carlos R., van Karnebeek, Clara D. M.
Publicado 2021

Toward the diagnosis of rare childhood genetic diseases: what do parents value most?

por Pollard, Samantha, Weymann, Deirdre, Dunne, Jessica, Mayanloo, Fatemeh, Buckell, John, Buchanan, James, Wordsworth, Sarah, Friedman, Jan M., Stockler-Ipsiroglu, Sylvia, Dragojlovic, Nick, Elliott, Alison M., Harrison, Mark, Lynd, Larry D., Regier, Dean A.
Publicado 2021

De novo pathogenic DNM1L variant in a patient diagnosed with atypical hereditary sensory and autonomic neuropathy

por Tarailo‐Graovac, Maja, Zahir, Farah R., Zivkovic, Irena, Moksa, Michelle, Selby, Kathryn, Sinha, Sunita, Nislow, Corey, Stockler‐Ipsiroglu, Sylvia G., Sheffer, Ruth, Saada‐Reisch, Ann, Friedman, Jan M., van Karnebeek, Clara D. M., Horvath, Gabriella A.
Publicado 2019

The genotypic and phenotypic spectrum of PIGA deficiency

por Tarailo-Graovac, Maja, Sinclair, Graham, Stockler-Ipsiroglu, Sylvia, Van Allen, Margot, Rozmus, Jacob, Shyr, Casper, Biancheri, Roberta, Oh, Tracey, Sayson, Bryan, Lafek, Mirafe, Ross, Colin J, Robinson, Wendy P, Wasserman, Wyeth W, Rossi, Andrea, van Karnebeek, Clara DM
Publicado 2015

Pädiatrie

por Karall, D., Meisinger, B., Grissenauer, G., Scholl-Bürgi, S., Heinz-Erian, P., Lagler, Florian, Sass, J. O., Grünert, S., Nussbaumer, E.-M., Schwab, K. O., Mönch, E., Hofer, A., Haberlandt, E., Oppl, V., Sperl, W., Spiekerkötter, U., Baumgartner Sigl, S., Stöckler-Ipsiroglu, S.
Publicado 2010

Morquio‐like dysostosis multiplex presenting with neuronopathic features is a distinct GLB1‐related phenotype

por Stockler‐Ipsiroglu, Sylvia, Yazdanpanah, Nahid, Yazdanpanah, Mojgan, Moisa Popurs, Marioara, Yuskiv, Nataliya, Schmitz Ferreira Santos, Mara Lúcia, Ae Kim, Chong, Fischinger Moura de Souza, Carolina, Marques Lourenço, Charles, Steiner, Carlos Eduardo, Federhen, Andressa, Giugliani, Luciana, Bastos Pereira, Débora Maria, Durán‐Carabali, Luz Elena, Giugliani, Roberto
Publicado 2021

Idiopathic splenomegaly in childhood and the spectrum of RAS-associated lymphoproliferative disease: a case report

por Blanchard-Rohner, Geraldine, Ragotte, Robert J., Junker, Anne K., Sharma, Mehul, Del Bel, Kate L., Lu, Henry Y., Erdle, Stephanie, Chomyn, Alanna, Gill, Harinder, Tucker, Lori B., Schreiber, Richard A., Rozmus, Jacob, Biggs, Catherine M., Hildebrand, Kyla J., Wu, John, Stockler-Ipsiroglu, Sylvia, Turvey, Stuart E.
Publicado 2021

ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder

por Cuvertino, Sara, Stuart, Helen M., Chandler, Kate E., Roberts, Neil A., Armstrong, Ruth, Bernardini, Laura, Bhaskar, Sanjeev, Callewaert, Bert, Clayton-Smith, Jill, Davalillo, Cristina Hernando, Deshpande, Charu, Devriendt, Koenraad, Digilio, Maria C., Dixit, Abhijit, Edwards, Matthew, Friedman, Jan M., Gonzalez-Meneses, Antonio, Joss, Shelagh, Kerr, Bronwyn, Lampe, Anne Katrin, Langlois, Sylvie, Lennon, Rachel, Loget, Philippe, Ma, David Y.T., McGowan, Ruth, Des Medt, Maryse, O’Sullivan, James, Odent, Sylvie, Parker, Michael J., Pebrel-Richard, Céline, Petit, Florence, Stark, Zornitza, Stockler-Ipsiroglu, Sylvia, Tinschert, Sigrid, Vasudevan, Pradeep, Villa, Olaya, White, Susan M., Zahir, Farah R., Woolf, Adrian S., Banka, Siddharth
Publicado 2017

Evaluation of the quality of clinical data collection for a pan-Canadian cohort of children affected by inherited metabolic diseases: lessons learned from the Canadian Inherited Me...

por Tingley, Kylie, Lamoureux, Monica, Pugliese, Michael, Geraghty, Michael T., Kronick, Jonathan B., Potter, Beth K., Coyle, Doug, Wilson, Kumanan, Kowalski, Michael, Austin, Valerie, Brunel-Guitton, Catherine, Buhas, Daniela, Chan, Alicia K. J., Dyack, Sarah, Feigenbaum, Annette, Giezen, Alette, Goobie, Sharan, Greenberg, Cheryl R., Ghai, Shailly Jain, Inbar-Feigenberg, Michal, Karp, Natalya, Kozenko, Mariya, Langley, Erica, Lines, Matthew, Little, Julian, MacKenzie, Jennifer, Maranda, Bruno, Mercimek-Andrews, Saadet, Mohan, Connie, Mhanni, Aizeddin, Mitchell, Grant, Mitchell, John J., Nagy, Laura, Napier, Melanie, Pender, Amy, Potter, Murray, Prasad, Chitra, Ratko, Suzanne, Salvarinova, Ramona, Schulze, Andreas, Siriwardena, Komudi, Sondheimer, Neal, Sparkes, Rebecca, Stockler-Ipsiroglu, Sylvia, Trakadis, Yannis, Turner, Lesley, Van Karnebeek, Clara, Vallance, Hilary, Vandersteen, Anthony, Walia, Jagdeep, Wilson, Ashley, Wilson, Brenda J., Yu, Andrea C., Yuskiv, Nataliya, Chakraborty, Pranesh
Publicado 2020