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

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

Source: JIMD Reports, Vol 60, Iss 1, Pp 23-31 (2021)

Subject Terms: dystonia, keratan sulfate, mucopolysaccharidosis type IVB, spondyloepiphyseal dysplasia, type 3 GM1 gangliosidosis, β‐galactosidase, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/2192-8312

Access URL: https://doaj.org/article/5f21718127ef4c69b7006f56d0a4bbcc

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 Research Network

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

Source: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-12 (2020)

Subject Terms: Inherited metabolic diseases, Observational research, Registry science, Data quality, Database, Sustainability, Medicine

File Description: electronic resource

Relation: http://link.springer.com/article/10.1186/s13023-020-01358-z; https://doaj.org/toc/1750-1172

Access URL: https://doaj.org/article/4dd97f1f0f9c499290bec8147590f10e

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

Authors: Iman S. Abumansour, Nataliya Yuskiv, Eduard Paschke, Sylvia Stockler‐Ipsiroglu

Source: JIMD Reports, Vol 51, Iss 1, Pp 30-44 (2020)

Subject Terms: dwarfism, literature review, mucopolysaccharidosis, natural history, spondyloepiphyseal dysplasia, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/2192-8312

Access URL: https://doaj.org/article/4da14e5ae0cb480abd5e010c16ff19fa

Nutritional management of phenylalanine hydroxylase (PAH) deficiency in pediatric patients in Canada: a survey of dietitians’ current practices

Authors: Nataliya Yuskiv, Beth K. Potter, Sylvia Stockler, Keiko Ueda, Alette Giezen, Barbara Cheng, Erica Langley, Suzanne Ratko, Valerie Austin, Maggie Chapman, Pranesh Chakraborty, Jean Paul Collet, Amy Pender, In collaboration with the Canadian Inherited Metabolic Diseases Research Network (CIMDRN)

Source: Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-13 (2019)

Subject Terms: PAH deficiency, Phenylketonuria, PKU, Management practices, Nutrition management, PAH deficiency practice guidelines, Medicine

File Description: electronic resource

Relation: http://link.springer.com/article/10.1186/s13023-018-0978-0; https://doaj.org/toc/1750-1172

Access URL: https://doaj.org/article/1b98183cdc9642988c4908da010160cd

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

Authors: Maria Bleier, Nataliya Yuskiv, Tina Priest, Marioara Angela Moisa Popurs, Sylvia Stockler-Ipsiroglu

Source: Molecular Genetics and Metabolism Reports, Vol 16, Iss , Pp 57-63 (2018)

Subject Terms: Medicine (General), R5-920, Biology (General), QH301-705.5

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426918300429; https://doaj.org/toc/2214-4269

Access URL: https://doaj.org/article/61d694f696224f73b172d85ca259dd7a

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