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Lentivirus-mediated gene therapy for Fabry disease

Nature communications, 2021-02, Vol.12 (1), p.1178-9, Article 1178

2021

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Mitochondrial Protein Homeostasis and Cardiomyopathy

International journal of molecular sciences, 2022-03, Vol.23 (6), p.3353

2022

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The phenotypic spectrum of KCNT1: a new family with variable epilepsy syndromes including mild focal epilepsy

Journal of neurology, 2022-04, Vol.269 (4), p.2162-2171

2022

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Agalsidase alfa versus agalsidase beta for the treatment of Fabry disease: an international cohort study

Journal of medical genetics, 2018-05, Vol.55 (5), p.351-358

2018

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Elevated Inflammatory Plasma Biomarkers in Patients With Fabry Disease: A Critical Link to Heart Failure With Preserved Ejection Fraction

Journal of the American Heart Association, 2018-11, Vol.7 (21), p.e009098

2018

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The International Collaborative Gaucher Group GRAF (Gaucher Risk Assessment for Fracture) score: a composite risk score for assessing adult fracture risk in imiglucerase-treated Gaucher disease type 1 patients

Orphanet journal of rare diseases, 2021-02, Vol.16 (1), p.92-92, Article 92

2021

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Spectrum of microarchitectural bone disease in inborn errors of metabolism: a cross-sectional, observational study

Orphanet journal of rare diseases, 2020-09, Vol.15 (1), p.251-251, Article 251

2020

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Reduced Right Ventricular Native Myocardial T1 in Anderson-Fabry Disease: Comparison to Pulmonary Hypertension and Healthy Controls

PloS one, 2016-06, Vol.11 (6), p.e0157565-e0157565

2016

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Pompe Disease: Diagnosis and Management. Evidence-Based Guidelines from a Canadian Expert Panel

Canadian journal of neurological sciences, 2016-07, Vol.43 (4), p.472-485

2016

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Systolic and Diastolic Function Assessment in Fabry Disease Patients Using Speckle-Tracking Imaging and Comparison with Conventional Echocardiographic Measurements

Journal of the American Society of Echocardiography, 2013-12, Vol.26 (12), p.1407-1414

2013

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Impact on bone microarchitecture and failure load in a patient with type I Gaucher disease who switched from Imiglucerase to Eliglustat

Molecular genetics and metabolism reports, 2020-09, Vol.24, p.100606, Article 100606

2020

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Mesenchymal Stem Cells Shift Mitochondrial Dynamics and Enhance Oxidative Phosphorylation in Recipient Cells

Frontiers in physiology, 2018-11, Vol.9, p.1572-1572

2018

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Skeletal Phenotypes Due to Abnormalities in Mitochondrial Protein Homeostasis and Import

International journal of molecular sciences, 2020-11, Vol.21 (21), p.8327

2020

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Cou Cou, flying fish and a whole exome please... lessons learned from genetic testing in Barbados

The Pan African medical journal, 2021-02, Vol.38 (111), p.111-111

2021

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Regulatory Framework for Conducting Clinical Research in Canada

Canadian Journal of Neurological Sciences, 2017-09, Vol.44 (5), p.469-474

2017

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Two Siblings With Valproate-Related Hyperammonemia and Novel Mutations in Glutamine Synthetase (GLUL) Treated With Carglumic Acid

Child neurology open, 2020-01, Vol.7, p.2329048

2020

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P032: Decoding the genetic tapestry of long chain fatty acid oxidation disorders: Unveiling novel insights with a dynamic locus-specific gene database

Genetics in Medicine Open, 2024, Vol.2, p.100909, Article 100909

2024

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Primary Hyperparathyroidism: An Overview

International Journal of Endocrinology, 2011-01, Vol.2011 (2011), p.25-32

2011

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SS-31 Peptide Reverses the Mitochondrial Fragmentation Present in Fibroblasts From Patients With DCMA, a Mitochondrial Cardiomyopathy

Frontiers in cardiovascular medicine, 2019-11, Vol.6, p.167-167

2019

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Improved lactate control with dichloroacetate in a case with severe neonatal lactic acidosis due to MTFMT mitochondrial translation disorder

Molecular genetics and metabolism reports, 2020-09, Vol.24, p.100616, Article 100616

2020

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Persistent hematopoietic polyclonality after lentivirus-mediated gene therapy for Fabry disease

Molecular therapy. Methods & clinical development, 2023-03, Vol.28, p.262-271

2023

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Vibration Therapy Tolerated in Children With Duchenne Muscular Dystrophy: A Pilot Study

Pediatric neurology, 2014-07, Vol.51 (1), p.126-129

2014

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Inhibition of epigenetic reader proteins by apabetalone counters inflammation in activated innate immune cells from Fabry disease patients receiving enzyme replacement therapy

Pharmacology research & perspectives, 2022-06, Vol.10 (3), p.e00949-n/a

2022

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AIMP1 Mutation Long-Term Follow-Up, With Decreased Brain N-Acetylaspartic Acid and Secondary Mitochondrial Abnormalities

Child neurology open, 2019, Vol.6, p.2329048X19829520

2019

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Enhanced stem cell engraftment and modulation of hepatic reactive oxygen species production in diet‐induced obesity

Obesity (Silver Spring, Md.), 2014-03, Vol.22 (3), p.721-729

2014

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Lentivirus-mediated gene therapy for Fabry disease

Mitochondrial Protein Homeostasis and Cardiomyopathy

The phenotypic spectrum of KCNT1: a new family with variable epilepsy syndromes including mild focal epilepsy

Agalsidase alfa versus agalsidase beta for the treatment of Fabry disease: an international cohort study

Elevated Inflammatory Plasma Biomarkers in Patients With Fabry Disease: A Critical Link to Heart Failure With Preserved Ejection Fraction

The International Collaborative Gaucher Group GRAF (Gaucher Risk Assessment for Fracture) score: a composite risk score for assessing adult fracture risk in imiglucerase-treated Gaucher disease type 1 patients

Spectrum of microarchitectural bone disease in inborn errors of metabolism: a cross-sectional, observational study

Reduced Right Ventricular Native Myocardial T1 in Anderson-Fabry Disease: Comparison to Pulmonary Hypertension and Healthy Controls

Pompe Disease: Diagnosis and Management. Evidence-Based Guidelines from a Canadian Expert Panel

Systolic and Diastolic Function Assessment in Fabry Disease Patients Using Speckle-Tracking Imaging and Comparison with Conventional Echocardiographic Measurements

Impact on bone microarchitecture and failure load in a patient with type I Gaucher disease who switched from Imiglucerase to Eliglustat

Mesenchymal Stem Cells Shift Mitochondrial Dynamics and Enhance Oxidative Phosphorylation in Recipient Cells

Skeletal Phenotypes Due to Abnormalities in Mitochondrial Protein Homeostasis and Import

Cou Cou, flying fish and a whole exome please... lessons learned from genetic testing in Barbados

Regulatory Framework for Conducting Clinical Research in Canada

Two Siblings With Valproate-Related Hyperammonemia and Novel Mutations in Glutamine Synthetase (GLUL) Treated With Carglumic Acid

P032: Decoding the genetic tapestry of long chain fatty acid oxidation disorders: Unveiling novel insights with a dynamic locus-specific gene database

Primary Hyperparathyroidism: An Overview

SS-31 Peptide Reverses the Mitochondrial Fragmentation Present in Fibroblasts From Patients With DCMA, a Mitochondrial Cardiomyopathy

Improved lactate control with dichloroacetate in a case with severe neonatal lactic acidosis due to MTFMT mitochondrial translation disorder

Persistent hematopoietic polyclonality after lentivirus-mediated gene therapy for Fabry disease

Vibration Therapy Tolerated in Children With Duchenne Muscular Dystrophy: A Pilot Study

Inhibition of epigenetic reader proteins by apabetalone counters inflammation in activated innate immune cells from Fabry disease patients receiving enzyme replacement therapy

AIMP1 Mutation Long-Term Follow-Up, With Decreased Brain N-Acetylaspartic Acid and Secondary Mitochondrial Abnormalities

Enhanced stem cell engraftment and modulation of hepatic reactive oxygen species production in diet‐induced obesity

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