Publications by authors named "Anthony Rupar"

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Outcome of two siblings with late-onset Krabbe disease following allogeneic hematopoietic stem cell transplantation: And review of literature.
Montaha Almudhry, Chitra Prasad, Keng Yow Tay, C Anthony Rupar, Harold Atkins

Mol Genet Metab Rep· September 2025

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Long Term Follow up of Short-Chain-L-3-Hydroxyacyl-CoA Dehydrogenase (SCHAD) Deficiency Causing Hypoglycemia and Developmental Delays in Two Syrian Brothers.
Annie Li, Robert Stein, C Anthony Rupar, Chitra Prasad

Indian J Pediatr· August 2025

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Lentivirus-mediated gene therapy for Fabry disease: 5-year End-of-Study results from the Canadian FACTs trial.
Aneal Khan, Dwayne L Barber, William M McKillop, C Anthony Rupar, Christiane Auray-Blais

Clin Transl Med· January 2025

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Metabolomic signature of pediatric diabetic ketoacidosis: key metabolites, pathways, and panels linked to clinical variables.
Paolo Spagnolo, David Tweddell, Enis Cela, Mark Daley, Cheril Clarson, C Anthony Rupar

Mol Med· December 2024

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Review of clinical trials and guidelines for children and youth with mucopolysaccharidosis: outcome selection and measurement.
Alison H Howie, Kylie Tingley, Michal Inbar-Feigenberg, John J Mitchell, Kim Angel, C Anthony Rupar

Orphanet J Rare Dis· October 2024

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Long-term follow-up of an attenuated presentation of NAXE-related disease, a potentially actionable neurometabolic disease: a case report.
Montaha Almudhry, Chitra Prasad, C Anthony Rupar, Keng Yeow Tay, Asuri N Prasad

Front Neurol· February 2024

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Methylmalonic aciduria as a biochemical marker for mitochondrial DNA depletion syndrome in patients with developmental delay and movement disorders: a case series.
Montaha Almudhry, Arushi Gahlot Saini, Mohammed A Al-Omari, Yashu Sharma, Maryam Nabavi Nouri, C Anthony Rupar

Front Neurol· November 2023

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A milder form of molybdenum cofactor deficiency type A presenting as Leigh's syndrome-like phenotype highlighting the secondary mitochondrial dysfunction: a case report.
Montaha Almudhry, Asuri N Prasad, C Anthony Rupar, Keng Yeow Tay, Suzanne Ratko

Front Neurol· September 2023

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Persistent hematopoietic polyclonality after lentivirus-mediated gene therapy for Fabry disease.
Amr H Saleh, Michael Rothe, Dwayne L Barber, William M McKillop, Graeme Fraser, C Anthony Rupar

Mol Ther Methods Clin Dev· March 2023

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Clinical Conundrum: Polyhydramnios as a Marker for a Fetal Genetic Syndrome in the Canadian Old Order Mennonite Population.
Janine Hutson, Victoria Mok Siu, C Anthony Rupar

J Obstet Gynaecol Can· July 2022

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Raisonnement clinique : L'hydramnios comme marqueur d'un syndrome génétique fœtal dans la population des mennonites du Vieil Ordre au Canada.
Janine Hutson, Victoria Mok Siu, C Anthony Rupar

J Obstet Gynaecol Can· July 2022

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Pitfalls in Genetic Testing for Consanguineous Pediatric Populations.
Maha Saleh, Samantha Colaiacovo, Melanie P Napier, Asuri N Prasad, C Anthony Rupar

Case Rep Genet· May 2022

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Autologous, lentivirus-modified, T-rapa cell "micropharmacies" for lysosomal storage disorders.
Murtaza S Nagree, Tania C Felizardo, Mary L Faber, Jitka Rybova, C Anthony Rupar

EMBO Mol Med· April 2022

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Expanding the phenotypic and molecular spectrum of NFS1-related disorders that cause functional deficiencies in mitochondrial and cytosolic iron-sulfur cluster containing enzymes.
Jennifer H Yang, Marisa W Friederich, Katarzyna A Ellsworth, Aliya Frederick, Emily Foreman, C Anthony Rupar

Hum Mutat· March 2022

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An Unexpected Finding of Hepatosplenomegaly in a Pediatric Patient.
Hailey C Barootes, Chitra Prasad, C Anthony Rupar, Dhandapani Ashok

Clin Pediatr (Phila)· January 2022

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Symptomatic mosaicism for a novel FBN1 splice site variant in a parent causing inherited neonatal Marfan syndrome.
Julianne K Postma, Luis Altamirano-Diaz, C Anthony Rupar, Victoria M Siu

Am J Med Genet A· August 2021

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Lentivirus-mediated gene therapy for Fabry disease.
Aneal Khan, Dwayne L Barber, Ju Huang, C Anthony Rupar, Jack W Rip

Nat Commun· February 2021

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Bone marrow-derived mitochondrial DNA has limited capacity for inter-tissue transfer in vivo.
Mark A Tarnopolsky, Jennifer Kerkhof, Alan Stuart, Adam Bujak, Mats I Nilsson, C Anthony Rupar

FASEB J· July 2020

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Use of complementary and alternative medicine in patients with inborn errors of metabolism: A single-center study.
Jessica Tao, C Anthony Rupar, Michael R Miller, Suzanne Ratko, Chitra Prasad

JIMD Rep· January 2020

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Health Care for Mitochondrial Disorders in Canada: A Survey of Physicians.
Karen Paik, Matthew A Lines, Pranesh Chakraborty, Sara D Khangura, Maureen Latocki, C Anthony Rupar

Can J Neurol Sci· November 2019

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Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease: Case and Review.
Christine Le, Asuri N Prasad, C Anthony Rupar, Derek Debicki, Andrea Andrade

Can J Neurol Sci· July 2019

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Complete elimination of a pathogenic homoplasmic mtDNA mutation in one generation.
Lauren Brady, Bekim Sadikovic, C Anthony Rupar, Mark A Tarnopolsky

Mitochondrion· March 2019

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Clinical Validation of Copy Number Variant Detection from Targeted Next-Generation Sequencing Panels.
Jennifer Kerkhof, Laila C Schenkel, Jack Reilly, Sheri McRobbie, Erfan Aref-Eshghi, C Anthony Rupar

J Mol Diagn· November 2017

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Identification of a novel synaptic protein, TMTC3, involved in periventricular nodular heterotopia with intellectual disability and epilepsy.
Sali M K Farhan, Kevin C J Nixon, Michelle Everest, Tara N Edwards, Shirley Long, C Anthony Rupar

Hum Mol Genet· November 2017

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The Usher Syndrome Type IIIB Histidyl-tRNA Synthetase Mutation Confers Temperature Sensitivity.
Jamie A Abbott, Ethan Guth, Cindy Kim, Cathy Regan, Victoria M Siu, C Anthony Rupar

Biochemistry· July 2017

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