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32 results for Stockler-Ipsiroglu,+Sylvia

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Morquio‐B disease: Clinical and genetic characteristics of a distinct GLB1‐related dysostosis multiplex
Author / Creator:Abumansour, Iman S. ; Yuskiv, Nataliya ; Paschke, Eduard ; Stockler‐Ipsiroglu, Sylvia
Publisher:Hoboken, USA: John Wiley & Sons, Inc
Journal title:JIMD reports, 2020-01, Vol.51 (1), p.30-44
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Dietary management and growth outcomes in children with propionic acidemia: A natural history study
Author / Creator:Saleemani, Haneen ; Egri, Csilla ; Horvath, Gabriella ; Stockler‐Ipsiroglu, Sylvia ; Elango, Rajavel
Publisher:Hoboken, USA: John Wiley & Sons, Inc
Journal title:JIMD reports, 2021-09, Vol.61 (1), p.67-75
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De novo pathogenic DNM1L variant in a patient diagnosed with atypical hereditary sensory and autonomic neuropathy
Author / Creator: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. ; Karnebeek, Clara D. M. ; Horvath, Gabriella A.
Publisher:United States: John Wiley & Sons, Inc
Journal title:Molecular genetics & genomic medicine, 2019-10, Vol.7 (10), p.e00961-n/a
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Morquio‐like dysostosis multiplex presenting with neuronopathic features is a distinct GLB1‐related phenotype
Author / Creator: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
Publisher:Hoboken, USA: John Wiley & Sons, Inc
Journal title:JIMD reports, 2021-07, Vol.60 (1), p.23-31
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Toward the diagnosis of rare childhood genetic diseases: what do parents value most?
Author / Creator: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.
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2021-10, Vol.29 (10), p.1491-1501
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Turning the TIDE for children with intellectual disability
Author / Creator:Sowerbutt, Claire
Publisher:Chicago: EnsembleIQ
Journal title:Medical Post, 2012-11, Vol.48 (19), p.30
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Treatable inherited metabolic disorders causing intellectual disability: 2021 review and digital app
Author / Creator: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.
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2021-04, Vol.16 (1), p.170-170, Article 170
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Claudin-11 in health and disease: implications for myelin disorders, hearing, and fertility
Author / Creator:Gjervan, Sophia C. ; Ozgoren, Oguz K. ; Gow, Alexander ; Stockler-Ipsiroglu, Sylvia ; Pouladi, Mahmoud A.
Publisher:Switzerland: Frontiers Research Foundation
Journal title:Frontiers in cellular neuroscience, 2024-01, Vol.17, p.1344090
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Treatable inborn errors of metabolism presenting as cerebral palsy mimics: systematic literature review
Author / Creator:Leach, Emma L ; Shevell, Michael ; Bowden, Kristin ; Stockler-Ipsiroglu, Sylvia ; van Karnebeek, Clara DM
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2014-11, Vol.9 (1), p.197-197, Article 197
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Correction to: Toward the diagnosis of rare childhood genetic diseases: what do parents value most?
Author / Creator: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.
Publisher:Leiden: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2021-10, Vol.29 (10), p.1589-1589
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The genotypic and phenotypic spectrum of PIGA deficiency
Author / Creator: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
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2015-02, Vol.10 (1), p.23-23, Article 23
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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 of treatments for rar...
Author / Creator:Tingley, Kylie ; Coyle, Doug ; Graham, Ian D. ; Sikora, Lindsey ; Chakraborty, Pranesh ; Wilson, Kumanan ; Mitchell, John J. ; Stockler-Ipsiroglu, Sylvia ; Potter, Beth K.
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2018-06, Vol.13 (1), p.104-104, Article 104
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Assessing the quality and value of metabolic chart data for capturing core outcomes for pediatric medium-chain acyl-CoA dehydrogenase (MCAD) deficiency
Author / Creator:Iverson, Ryan ; Taljaard, Monica ; Geraghty, Michael T. ; Pugliese, Michael ; Tingley, Kylie ; Coyle, Doug ; Kronick, Jonathan B. ; Wilson, Kumanan ; Austin, Valerie ; Brunel-Guitton, Catherine ; Buhas, Daniela ; Butcher, Nancy J. ; Chan, Alicia K. J. ; Dyack, Sarah ; Goobie, Sharan ; Greenberg, Cheryl R. ; Jain-Ghai, Shailly ; Inbar-Feigenberg, Michal ; Karp, Natalya ; Kozenko, Mariya ; Langley, Erica ; Lines, Matthew ; Little, Julian ; MacKenzie, Jennifer ; Maranda, Bruno ; Mercimek-Andrews, Saadet ; Mhanni, Aizeddin ; Mitchell, John J. ; Nagy, Laura ; Offringa, Martin ; Pender, Amy ; Potter, Murray ; Prasad, Chitra ; Ratko, Suzanne ; Salvarinova, Ramona ; Schulze, Andreas ; Siriwardena, Komudi ; Sondheimer, Neal ; Sparkes, Rebecca ; Stockler-Ipsiroglu, Sylvia ; Tapscott, Kendra ; Trakadis, Yannis ; Turner, Lesley ; Van Karnebeek, Clara ; Vandersteen, Anthony ; Walia, Jagdeep S. ; Wilson, Brenda J. ; Yu, Andrea C. ; Potter, Beth K. ; Chakraborty, Pranesh
Publisher:England: BioMed Central Ltd
Journal title:BMC pediatrics, 2024-01, Vol.24 (1), p.37-37, Article 37
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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 Metabolic Diseases Res...
Author / Creator: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
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2020-04, Vol.15 (1), p.89-89, Article 89
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Idiopathic splenomegaly in childhood and the spectrum of RAS-associated lymphoproliferative disease: a case report
Author / Creator: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.
Publisher:England: BioMed Central Ltd
Journal title:BMC pediatrics, 2021-01, Vol.21 (1), p.45-45, Article 45
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Long-Term Stability of Amino Acids and Acylcarnitines in Dried Blood Spots
Author / Creator:Strnadova, Kristina Anna ; Holub, Margareta ; Muhl, Adolf ; Heinze, Georg ; Ratschmann, Rene ; Mascher, Hermann ; Stockler-Ipsiroglu, Sylvia ; Waldhauser, Franz ; Votava, Felix ; Lebl, Jan ; Bodamer, Olaf A
Publisher:Washington, DC: Am Assoc Clin Chem
Journal title:Clinical chemistry (Baltimore, Md.), 2007-04, Vol.53 (4), p.717-722
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Morquio B Disease. Disease Characteristics and Treatment Options of a Distinct GLB1-Related Dysostosis Multiplex
Author / Creator:Yuskiv, Nataliya ; Higaki, Katsumi ; Stockler-Ipsiroglu, Sylvia
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2020-11, Vol.21 (23), p.9121
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Newborn Screening for MCAD Deficiency: Experience of the First Three Years in British Columbia, Canada
Author / Creator:Horvath, Gabriella A. ; Olpin, S. ; Davidson, A.G.F. ; Andresen, B.S. ; Stockler-Ipsiroglu, Sylvia G. ; Palaty, Jan ; Lillquist, Yolanda P. ; Nelson, Judie ; Waters, Paula J. ; Vallance, Hilary
Publisher:Cham: Canadian Public Health Association
Journal title:Canadian journal of public health, 2008-07, Vol.99 (4), p.276-280
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Diagnostic yield from routine metabolic screening tests in evaluation of global developmental delay and intellectual disability
Author / Creator:Vallance, Hilary ; Sinclair, Graham ; Rakic, Bojana ; Stockler-Ipsiroglu, Sylvia
Publisher:US: Oxford University Press
Journal title:Paediatrics & child health, 2021-10, Vol.26 (6), p.344-348
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Health Care Costs After Genome-Wide Sequencing for Children With Rare Diseases in England and Canada
Author / Creator:Weymann, Deirdre ; Buckell, John ; Fahr, Patrick ; Loewen, Rosalie ; Ehman, Morgan ; Pollard, Samantha ; Friedman, Jan M. ; Stockler-Ipsiroglu, Sylvia ; Elliott, Alison M. ; Wordsworth, Sarah ; Buchanan, James ; Regier, Dean A.
Publisher:United States: American Medical Association
Journal title:JAMA network open, 2024-07, Vol.7 (7), p.e2420842
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Showing 1 to 20 of 32 results

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

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

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

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

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

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Turning the TIDE for children with intellectual disability

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

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Claudin-11 in health and disease: implications for myelin disorders, hearing, and fertility

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

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

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The genotypic and phenotypic spectrum of PIGA deficiency

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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 of treatments for rar...

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Assessing the quality and value of metabolic chart data for capturing core outcomes for pediatric medium-chain acyl-CoA dehydrogenase (MCAD) deficiency

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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 Metabolic Diseases Res...

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

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Long-Term Stability of Amino Acids and Acylcarnitines in Dried Blood Spots

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

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Newborn Screening for MCAD Deficiency: Experience of the First Three Years in British Columbia, Canada

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Diagnostic yield from routine metabolic screening tests in evaluation of global developmental delay and intellectual disability

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Health Care Costs After Genome-Wide Sequencing for Children With Rare Diseases in England and Canada

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