Establishment of variant free-iPSC (UOMi003-A) line from patient with mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes

by Glen Lester Sequiera, Cheryl Rockman-Greenberg, Sanjiv Dhingra
Published 2020-10-01

Induced pluripotent stem cell line UOMi002-A from a patient with Leigh syndrome with compound heterozygous mutations in the NDUFV1 gene

by Glen Lester Sequiera, Cheryl Rockman-Greenberg, Sanjiv Dhingra
Published 2020-10-01

Generation of human induced pluripotent stem cell (hiPSC) line UOMi001-A from a patient with Leigh-like syndrome harbouring compound heterozygous variants in ECHS1 gene

by Glen Lester Sequiera, Cheryl Rockman-Greenberg, Sanjiv Dhingra
Published 2020-10-01

Prenatal onset of the neuroradiologic phenotype of pyruvate carboxylase deficiency due to homozygous PC c.1828G > A mutations

by Aizeddin A. Mhanni, Cheryl Rockman‐Greenberg, Lawrence Ryner, Martin Bunge
Published 2021-09-01

Caffeine is a risk factor for osteopenia of prematurity in preterm infants: a cohort study

by Ebtihal Ali, Cheryl Rockman-Greenberg, Michael Moffatt, Michael Narvey, Martin Reed, Depeng Jiang
Published 2018-01-01

Generation of human induced pluripotent stem cell (hiPSC) line UOMi005-A from PBMCs of a patient with Kearns-Sayre syndrome

by Abhay Srivastava, Glen Lester Sequiera, Keshav Narayan Alagarsamy, Cheryl Rockman-Greenberg, Sanjiv Dhingra
Published 2021-05-01

Human induced pluripotent stem cell (hiPSC) line UOMi006-A derived from PBMCs of a patient with Kearns-Sayre syndrome

by Abhay Srivastava, Keshav Narayan Alagarsamy, Glen Lester Sequiera, Cheryl Rockman-Greenberg, Sanjiv Dhingra
Published 2021-05-01

Generation and Evaluation of Isogenic iPSC as a Source of Cell Replacement Therapies in Patients with Kearns Sayre Syndrome

by Glen Lester Sequiera, Abhay Srivastava, Keshav Narayan Alagarsamy, Cheryl Rockman-Greenberg, Sanjiv Dhingra
Published 2021-03-01

Multigenerational case examples of hypophosphatasia: Challenges in genetic counseling and disease management

by Erin Huggins, Ricardo Ong, Cheryl Rockman-Greenberg, Lauren Bailey Flueckinger, Kathryn M. Dahir, Priya S. Kishnani
Published 2020-12-01

Enzyme replacement therapy in perinatal hypophosphatasia: Case report of a negative outcome and lessons for clinical practice

by Gregory Costain, Aideen M. Moore, Lauren Munroe, Alison Williams, Randi Zlotnik Shaul, Cheryl Rockman-Greenberg, Martin Offringa, Peter Kannu
Published 2018-03-01

Mass Spectrometry Evaluation of Biomarkers in the Vitreous Fluid in Gaucher Disease Type 3 with Disease Progression Despite Long-Term Treatment

by Aizeddin Mhanni, Michel Boutin, Frank Stockl, Janine Johnston, Jeff Barnes, Donald Duerksen, Leanne Zimmer, Christiane Auray-Blais, Cheryl Rockman-Greenberg
Published 2020-01-01

Diagnostic delay is common among patients with hypophosphatasia: initial findings from a longitudinal, prospective, global registry

by Wolfgang Högler, Craig Langman, Hugo Gomes da Silva, Shona Fang, Agnès Linglart, Keiichi Ozono, Anna Petryk, Cheryl Rockman-Greenberg, Lothar Seefried, Priya S. Kishnani
Published 2019-02-01

Type A Aortic Dissection, Apparent Mineralocorticoid Excess Syndrome, and Syndromic Aortic Root Dilatation

by Melanie Richard, CCPA, Pallav Shah, MD, Pam Katz, MD, Karin Love, CCPA, Nikki Semaniuk, CCPA, Alan Menkis, MD, Cheryl Rockman-Greenberg, MD, CM
Published 2017-01-01

Correction to: Does specialist physician supply affect pediatric asthma health outcomes?

by Guido Filler, Tom Kovesi, Erik Bourdon, Sarah Ann Jones, Laurentiu Givelichian, Cheryl Rockman-Greenberg, Jason Gilliland, Marion Williams, Elaine Orrbine, Bruno Piedboeuf, The Paediatric Chairs of Canada
Published 2019-11-01

Therapeutic challenges in two adolescent male patients with Fabry disease and high antibody titres

by Aizeddin A. Mhanni, Christiane Auray-Blais, Michel Boutin, Alie Johnston, Kaye LeMoine, Jill Patterson, Johannes M.F.G. Aerts, Michael L. West, Cheryl Rockman-Greenberg
Published 2020-09-01

Does specialist physician supply affect pediatric asthma health outcomes?

by Guido Filler, Tom Kovesi, Erik Bourdon, Sarah Ann Jones, Laurentiu Givelichian, Cheryl Rockman-Greenberg, Jason Gilliland, Marion Williams, Elaine Orrbine, Bruno Piedboeuf, The Paediatric Chairs of Canada Mark Bernstein
Published 2018-04-01

Association of the CPT1A p.P479L Metabolic Gene Variant With Childhood Respiratory and Other Infectious Illness in Nunavut

by Sorcha A. Collins, Sharon Edmunds, Gwen Healey Akearok, J. Robert Thompson, Anders C. Erickson, Elske Hildes-Ripstein, Amber Miners, Martin Somerville, David M. Goldfarb, Cheryl Rockman-Greenberg, Laura Arbour
Published 2021-07-01

Health services use among children diagnosed with medium-chain acyl-CoA dehydrogenase deficiency through newborn screening: a cohort study in Ontario, Canada

by Maria D. Karaceper, Sara D. Khangura, Kumanan Wilson, Doug Coyle, Marni Brownell, Christine Davies, Linda Dodds, Annette Feigenbaum, Deshayne B. Fell, Scott D. Grosse, Astrid Guttmann, Steven Hawken, Robin Z. Hayeems, Jonathan B. Kronick, Anne-Marie Laberge, Julian Little, Aizeddin Mhanni, John J. Mitchell, Meranda Nakhla, Murray Potter, Chitra Prasad, Cheryl Rockman-Greenberg, Rebecca Sparkes, Sylvia Stockler, Keiko Ueda, Hilary Vallance, Brenda J. Wilson, Pranesh Chakraborty, Beth K. Potter, in collaboration with the Canadian Inherited Metabolic Diseases Research Network (CIMDRN)
Published 2019-03-01