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Review of clinical trials and guidelines for children and youth with mucopolysaccharidosis: outcome selection and measurement.
Published in:
Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03364-x
By:
- Howie, Alison H.;
- Tingley, Kylie;
- Inbar-Feigenberg, Michal;
- Mitchell, John J.;
- Angel, Kim;
- Gentle, Jenifer;
- Smith, Maureen;
- Offringa, Martin;
- Butcher, Nancy J.;
- Campeau, Philippe M.;
- Chakraborty, Pranesh;
- Chan, Alicia;
- Fergusson, Dean;
- Mamak, Eva;
- McClelland, Peyton;
- Mercimek-Andrews, Saadet;
- Mhanni, Aizeddin;
- Moazin, Zeinab;
- Rockman-Greenberg, Cheryl;
- Rupar, C. Anthony
Publication type:
Article
Management and Outcomes of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCAD Deficiency): A Retrospective Chart Review.
Published in:
International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 2, p. 29, doi. 10.3390/ijns10020029
By:
- Al Bandari, Maria;
- Nagy, Laura;
- Cruz, Vivian;
- Hewson, Stacy;
- Hossain, Alomgir;
- Inbar-Feigenberg, Michal
Publication type:
Article
Ataxia and confusion in a 10-year-old girl.
Published in:
2021
By:
- Chan, Calvin C H;
- Kukreti, Vinay;
- Inbar-Feigenberg, Michal;
- Adrian-Gutierrez, Javier
Publication type:
Case Study
Mitochondrial POLG related disorder presenting prenatally with fetal cerebellar growth arrest.
Published in:
Metabolic Brain Disease, 2018, v. 33, n. 4, p. 1369, doi. 10.1007/s11011-018-0218-2
By:
- Inbar-Feigenberg, Michal;
- Blaser, Susan;
- Hawkins, Cynthia;
- Shannon, Patrick;
- Hewson, Stacy;
- Chitayat, David
Publication type:
Article
Phenotype, biochemical features, genotype and treatment outcome of pyridoxine-dependent epilepsy.
Published in:
Metabolic Brain Disease, 2017, v. 32, n. 2, p. 443, doi. 10.1007/s11011-016-9933-8
By:
- Al Teneiji, Amal;
- Bruun, Theodora;
- Cordeiro, Dawn;
- Patel, Jaina;
- Inbar-Feigenberg, Michal;
- Weiss, Shelly;
- Struys, Eduard;
- Mercimek-Mahmutoglu, Saadet
Publication type:
Article
Correction to: Establishing a core outcome set for mucopolysaccharidoses (MPS) in children: study protocol for a rapid literature review, candidate outcomes survey, and Delphi surveys.
Published in:
2021
By:
- Howie, Alison H.;
- Tingley, Kylie;
- Inbar-Feigenberg, Michal;
- Mitchell, John J.;
- Butcher, Nancy J.;
- Offringa, Martin;
- Smith, Maureen;
- Angel, Kim;
- Gentle, Jenifer;
- Wyatt, Alexandra;
- Campeau, Philippe M.;
- Chan, Alicia;
- Chakraborty, Pranesh;
- El Turk, Farah;
- Mamak, Eva;
- Mhanni, Aizeddin;
- Skidmore, Becky;
- Sparkes, Rebecca;
- Stockler, Sylvia;
- Potter, Beth K.
Publication type:
corrected article
Establishing a core outcome set for mucopolysaccharidoses (MPS) in children: study protocol for a rapid literature review, candidate outcomes survey, and Delphi surveys.
Published in:
Trials, 2021, v. 22, n. 1, p. 1, doi. 10.1186/s13063-021-05791-8
By:
- Howie, Alison H.;
- Tingley, Kylie;
- Inbar-Feigenberg, Michal;
- Mitchell, John J.;
- Butcher, Nancy J.;
- Offringa, Martin;
- Smith, Maureen;
- Angel, Kim;
- Gentle, Jenifer;
- Wyatt, Alexandra;
- Campeau, Philippe M.;
- Chan, Alicia;
- Chakraborty, Pranesh;
- El Turk, Farah;
- Mamak, Eva;
- Mhanni, Aizeddin;
- Skidmore, Becky;
- Sparkes, Rebecca;
- Stockler, Sylvia;
- Potter, Beth K.
Publication type:
Article
Establishing a core outcome set for mucopolysaccharidoses (MPS) in children: study protocol for a rapid literature review, candidate outcomes survey, and Delphi surveys.
Published in:
2021
By:
- Howie, Alison H.;
- Tingley, Kylie;
- Inbar-Feigenberg, Michal;
- Mitchell, John J.;
- Butcher, Nancy J.;
- Offringa, Martin;
- Smith, Maureen;
- Angel, Kim;
- Gentle, Jenifer;
- Wyatt, Alexandra;
- Campeau, Philippe M.;
- Chan, Alicia;
- Chakraborty, Pranesh;
- El Turk, Farah;
- Mamak, Eva;
- Mhanni, Aizeddin;
- Skidmore, Becky;
- Sparkes, Rebecca;
- Stockler, Sylvia;
- Potter, Beth K.
Publication type:
journal article
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.
Published in:
2020
By:
- 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
Publication type:
journal article
Family‐centred care interventions for children with chronic conditions: A scoping review.
Published in:
Health Expectations, 2024, v. 27, n. 1, p. 1, doi. 10.1111/hex.13897
By:
- Chow, Andrea J.;
- Saad, Ammar;
- Al‐Baldawi, Zobaida;
- Iverson, Ryan;
- Skidmore, Becky;
- Jordan, Isabel;
- Pallone, Nicole;
- Smith, Maureen;
- Chakraborty, Pranesh;
- Brehaut, Jamie;
- Cohen, Eyal;
- Dyack, Sarah;
- Gillis, Jane;
- Goobie, Sharan;
- Greenberg, Cheryl R.;
- Hayeems, Robin;
- Hutton, Brian;
- Inbar‐Feigenberg, Michal;
- Jain‐Ghai, Shailly;
- Khangura, Sara
Publication type:
Article
Liver transplantation for Gaucher disease presenting as neonatal cholestasis: Case report and literature review.
Published in:
Pediatric Transplantation, 2020, v. 24, n. 4, p. 1, doi. 10.1111/petr.13718
By:
- Soudek, Lucy;
- Siddiqui, Iram;
- Guerin, Andrea;
- Sondheimer, Neal;
- Inbar‐Feigenberg, Michal;
- Abuquteish, Dua;
- Walia, Jagdeep S.;
- Kamath, Binita M.;
- Kehar, Mohit
Publication type:
Article
Assessing the quality and value of metabolic chart data for capturing core outcomes for pediatric medium-chain acyl-CoA dehydrogenase (MCAD) deficiency.
Published in:
BMC Pediatrics, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12887-023-04393-4
By:
- 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
Publication type:
Article
Ethical and practical considerations related to data sharing when collecting patient-reported outcomes in care-based child health research.
Published in:
Quality of Life Research, 2023, v. 32, n. 8, p. 2319, doi. 10.1007/s11136-023-03393-2
By:
- Vanderhout, Shelley;
- Potter, Beth K.;
- Smith, Maureen;
- Butcher, Nancy J.;
- Vaters, Jordan;
- Chakraborty, Pranesh;
- Adams, John;
- Inbar-Feigenberg, Michal;
- Offringa, Martin;
- Speechley, Kathy;
- Trakadis, Yannis;
- Binik, Ariella
Publication type:
Article
Family Experiences with Care for Children with Inherited Metabolic Diseases in Canada: A Cross-Sectional Survey.
Published in:
Patient, 2022, v. 15, n. 2, p. 171, doi. 10.1007/s40271-021-00538-8
By:
- Chow, Andrea J.;
- Pugliese, Michael;
- Tessier, Laure A.;
- Chakraborty, Pranesh;
- Iverson, Ryan;
- Coyle, Doug;
- Kronick, Jonathan B.;
- Wilson, Kumanan;
- Hayeems, Robin;
- Al-Hertani, Walla;
- Inbar-Feigenberg, Michal;
- Jain-Ghai, Shailly;
- Laberge, Anne-Marie;
- Little, Julian;
- Mitchell, John J.;
- Prasad, Chitra;
- Siriwardena, Komudi;
- Sparkes, Rebecca;
- Speechley, Kathy N.;
- Stockler, Sylvia
Publication type:
Article
New insights into carnitine‐acylcarnitine translocase deficiency from 23 cases: Management challenges and potential therapeutic approaches.
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 4, p. 903, doi. 10.1002/jimd.12371
By:
- Ryder, Bryony;
- Inbar‐Feigenberg, Michal;
- Glamuzina, Emma;
- Halligan, Rebecca;
- Vara, Roshni;
- Elliot, Aoife;
- Coman, David;
- Minto, Tahlee;
- Lewis, Katherine;
- Schiff, Manuel;
- Vijay, Suresh;
- Akroyd, Rhonda;
- Thompson, Sue;
- MacDonald, Anita;
- Woodward, Abigail J. M.;
- Gribben, Joanne. E. L.;
- Grunewald, Stephanie;
- Belaramani, Kiran;
- Hall, Madeleine;
- Haak, Natalie
Publication type:
Article
Mosaicism for genome-wide paternal uniparental disomy with features of multiple imprinting disorders: Diagnostic and management issues.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 1, p. 13, doi. 10.1002/ajmg.a.35651
By:
- Inbar‐Feigenberg, Michal;
- Choufani, Sanaa;
- Cytrynbaum, Cheryl;
- Chen, Yi‐An;
- Steele, Leslie;
- Shuman, Cheryl;
- Ray, Peter N.;
- Weksberg, Rosanna
Publication type:
Article
A deleterious founder mutation in the BMPER gene causes diaphanospondylodysostosis (DSD).
Published in:
American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 11, p. 2801, doi. 10.1002/ajmg.a.34240
By:
- Ben-Neriah, Ziva;
- Michaelson-Cohen, Rachel;
- Inbar-Feigenberg, Michal;
- Nadjari, Michael;
- Zeligson, Sharon;
- Shaag, Avraham;
- Zenvirt, Shamir;
- Elpeleg, Orly;
- Levy-Lahad, Ephrat
Publication type:
Article
Clinical features, functional consequences, and rescue pharmacology of missense GRID1 and GRID2 human variants.
Published in:
Human Molecular Genetics, 2024, v. 33, n. 4, p. 355, doi. 10.1093/hmg/ddad188
By:
- Allen, James P;
- Garber, Kathryn B;
- Perszyk, Riley;
- Khayat, Cara T;
- Kell, Steven A;
- Kaneko, Maki;
- Quindipan, Catherine;
- Saitta, Sulagna;
- Ladda, Roger L;
- Hewson, Stacy;
- Inbar-Feigenberg, Michal;
- Prasad, Chitra;
- Prasad, Asuri N;
- Olewiler, Leah;
- Mu, Weiyi;
- Rosenthal, Liana S;
- Scala, Marcello;
- Striano, Pasquale;
- Zara, Federico;
- McCullock, Tyler W
Publication type:
Article

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