Works matching AU Inbar-Feigenberg, Michal

Results: 20

Evaluation of early treatment with intravenous idursulfase and intrathecal idursulfase‐IT on cognitive function in siblings with neuronopathic mucopolysaccharidosis II.

Published in:

Journal of Inherited Metabolic Disease, 2025, v. 48, n. 3, p. 1, doi. 10.1002/jimd.12790

By:

Muenzer, Joseph;
Burton, Barbara K.;
Harmatz, Paul;
Gutiérrez‐Solana, Luis González;
Ruiz‐Garcia, Matilde;
Jones, Simon A.;
Guffon, Nathalie;
Inbar‐Feigenberg, Michal;
Bratkovic, Drago;
Rust, Stewart;
Hale, Michael;
Wu, Yuna;
Yee, Karen S.;
Whiteman, David A. H.;
Alexanderian, David

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

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

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

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

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

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

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

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

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

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

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:

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:

Literature Review

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

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

Retrograde response to mitochondrial dysfunctions associated to LOF variations in FLAD1 exon 2: unraveling the importance of RFVT2.

Published in:

Free Radical Research, 2022, v. 56, n. 7/8, p. 511, doi. 10.1080/10715762.2022.2146501

By:

Tolomeo, Maria;
Chimienti, Guglielmina;
Lanza, Martina;
Barbaro, Roberto;
Nisco, Alessia;
Latronico, Tiziana;
Leone, Piero;
Petrosillo, Giuseppe;
Liuzzi, Grazia Maria;
Ryder, Bryony;
Inbar-Feigenberg, Michal;
Colella, Matilde;
Lezza, Angela M. S.;
Olsen, Rikke K. J.;
Barile, Maria

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

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

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