Publications by authors named "Sandra Sirrs"

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Risk factors, stroke rates and aspirin prescribing trends in the Canadian Fabry disease initiative cohort.
Emilie T Théberge, Caroline Selvage, Anita Thomas, Kaye M LeMoine, Rebecca Robichaud, Sandra Sirrs

Orphanet J Rare Dis· November 2025

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Investigating the role of a novel hemizygous FAAH2 variant in neurological and metabolic disorders.
Mirella Vinci, Donatella Greco, Simone Treccarichi, Antonino Musumeci, Angelo Gloria, Sandra Sirrs

Gene· September 2025

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Screening for Life: Perspectives From Adult Metabolic Specialists on Newborn Screening for Inherited Metabolic Diseases.
Mirjam Langeveld, Sandra Sirrs, Daphne H Schoenmakers, Timothy Fazio, Melanie M van der Klauw

J Inherit Metab Dis· July 2025

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Protein requirements in adults with phenylketonuria and bioavailability of glycomacropeptide compared to an l-amino acid-based product.
Abrar Turki, Sylvia Stockler-Ipsiroglu, Sandra Sirrs, Jennifer Branov, Taryn Bosdet

J Inherit Metab Dis· January 2025

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Federal Funding for Expensive Drugs for Rare Diseases: How Do We Pick and Choose?
Joel Lexchin, Sandra Sirrs

Healthc Policy· August 2024

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[Not Available].
Linda Dix-Cooper, Sandra Sirrs

Can Fam Physician· January 2024

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Consent forms used by patient assistance programs raise privacy concerns.
Linda Dix-Cooper, Sandra Sirrs

Can Fam Physician· January 2024

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Response to "Canadians Need Improved Access to Drugs for Rare Diseases, Not More Denial".
Sandra Sirrs, Bashir Jiwani, Eric Lun, Bob Nakagawa, Anne McFarlane

Healthc Pap· April 2023

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Impact of hematopoietic stem cell transplantation in glycogen storage disease type Ib: A single-subject research design using C-glucose breath test.
Abrar Turki, Sylvia Stockler, Sandra Sirrs, Kathleen Duddy, Gloria Ho

Mol Genet Metab Rep· March 2023

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Expensive Drugs for Rare Diseases in Canada: What Value and at What Cost?
Sandra Sirrs, Helen Anderson, Bashir Jiwani, Larry D Lynd, Eric Lun

Healthc Pap· January 2023

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Expensive Drugs for Rare Diseases in Canada: Time for Action Everywhere and by Everyone.
Sandra Sirrs, Helen Anderson, Bashir Jiwani, Eric Lun, Bob Nakagawa

Healthc Pap· January 2023

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The right tool for the job-Fit for purpose training programs in adult metabolic medicine.
Annalisa Sechi, Elisa Fabbro, Sandra Sirrs

J Inherit Metab Dis· September 2022

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Training competencies in adult metabolic medicine: A survey of working adult metabolic medicine physicians.
Sandra Sirrs, Elisa Fabbro, Annalisa Sechi,

JIMD Rep· September 2022

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Development of minimally invasive C-glucose breath test to examine different exogenous carbohydrate sources in patients with glycogen storage disease type Ia.
Abrar Turki, Sylvia Stockler, Sandra Sirrs, Ramona Salvarinova, Gloria Ho

Mol Genet Metab Rep· June 2022

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Lost in translation-Challenges in drug development for inherited metabolic diseases.
Robin H Lachmann, Marc C Patterson, Sandra Sirrs

J Inherit Metab Dis· May 2022

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The Safety of Agalsidase Alfa Enzyme Replacement Therapy in Canadian Patients with Fabry Disease Following Implementation of a Bioreactor Process.
Aneal Khan, Sandra M Sirrs, Daniel G Bichet, Chantal F Morel, Adina Tocoian

Drugs R D· December 2021

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Independent Registries Are Cost-Effective Tools to Provide Mandatory Postauthorization Surveillance for Orphan Medicinal Products.
Sandra M Sirrs, Marie-Francoise Arthus, Daniel G Bichet, Cheryl Rockman-Greenberg, Kaye LeMoine

Value Health· February 2021

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Management of mitochondrial diabetes in the era of novel therapies.
Roseanne O Yeung, Mohammad Al Jundi, Sriram Gubbi, Maria E Bompu, Sandra Sirrs

J Diabetes Complications· January 2021

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Registries for orphan drugs: generating evidence or marketing tools?
Carla E M Hollak, Sandra Sirrs, Sibren van den Berg, Vincent van der Wel, Mirjam Langeveld

Orphanet J Rare Dis· September 2020

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High rate of hypertension in patients with m.3243A>G MELAS mutations and POLG variants.
Andrew D Pauls, Vikrant Sandhu, Dana Young, Dayna-Lynn Nevay, Darwin F Yeung, Sandra Sirrs

Mitochondrion· July 2020

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Brain MRI features and scoring of leukodystrophy in adult-onset Krabbe disease.
Louis Cousyn, Bruno Law-Ye, Nadya Pyatigorskaya, Rabab Debs, Roseline Froissart, Sandra M Sirrs

Neurology· August 2019

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Lessons from lung transplantation: Cause for redefining the pathophysiology of pulmonary hypertension in gaucher disease.
Gillian C Goobie, Sandra M Sirrs, John Yee, John C English, Celine Bergeron

Respir Med Case Rep· June 2019

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A mitochondrial DNA D loop insertion detected almost exclusively in non-replicating tissues with maternal inheritance across three generations.
Mehul A Sharma, Ja Young J Lee, Andrea Tam, Beheroze Sattha, Ian R Mackenzie, Sandra Sirrs

Mitochondrion· May 2019

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Subspecialty training in adult inherited metabolic diseases: a call to action for unmet needs.
Fady Hannah-Shmouni, Constantine A Stratakis, Annalisa Sechi, Mirjam Langeveld, Tarekegn G Hiwot, Sandra Sirrs

Lancet Diabetes Endocrinol· February 2019

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When zebras run with horses - inherited metabolic diseases come mainstream.
Sandra Sirrs, Larry Lynd

Rev Endocr Metab Disord· March 2018

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