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Regulatory Framework for Conducting Clinical Research in Canada.
- Published in:
- Canadian Journal of Neurological Sciences, 2017, v. 44, n. 5, p. 469, doi. 10.1017/cjn.2016.458
- By:
- Publication type:
- Article
Inhibition of epigenetic reader proteins by apabetalone counters inflammation in activated innate immune cells from Fabry disease patients receiving enzyme replacement therapy.
- Published in:
- Pharmacology Research & Perspectives, 2022, v. 10, n. 3, p. 1, doi. 10.1002/prp2.949
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- Publication type:
- Article
The Safety of Agalsidase Alfa Enzyme Replacement Therapy in Canadian Patients with Fabry Disease Following Implementation of a Bioreactor Process.
- Published in:
- Drugs in R&D, 2021, v. 21, n. 4, p. 385, doi. 10.1007/s40268-021-00361-4
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- Publication type:
- Article
Reducing selection bias in case-control studies from rare disease registries.
- Published in:
- 2011
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- Publication type:
- journal article
Mitochondrial Protein Homeostasis and Cardiomyopathy.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 6, p. 3353, doi. 10.3390/ijms23063353
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- Publication type:
- Article
Skeletal Phenotypes Due to Abnormalities in Mitochondrial Protein Homeostasis and Import.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 21, p. 8327, doi. 10.3390/ijms21218327
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- Publication type:
- Article
Neurodegeneration in D-bifunctional protein deficiency: diagnostic clues and natural history using serial magnetic resonance imaging.
- Published in:
- 2010
- By:
- Publication type:
- Case Study
Two Siblings With Valproate-Related Hyperammonemia and Novel Mutations in Glutamine Synthetase (GLUL) Treated With Carglumic Acid.
- Published in:
- Child Neurology Open, 2020, p. 1, doi. 10.1177/2329048X20967880
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- Publication type:
- Article
Two Siblings With Valproate-Related Hyperammonemia and Novel Mutations in Glutamine Synthetase (GLUL) Treated With Carglumic Acid.
- Published in:
- Child Neurology Open, 2020, v. 7, p. 1, doi. 10.1177/2329048X20967880
- By:
- Publication type:
- Article
AIMP1 Mutation Long-Term Follow-Up, With Decreased Brain N -Acetylaspartic Acid and Secondary Mitochondrial Abnormalities.
- Published in:
- Child Neurology Open, 2019, v. 6, n. 7, p. N.PAG, doi. 10.1177/2329048X19829520
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- Publication type:
- Article
AIMP1 Mutation Long-Term Follow-Up, With Decreased Brain N -Acetylaspartic Acid and Secondary Mitochondrial Abnormalities.
- Published in:
- Child Neurology Open, 2019, v. 6, p. N.PAG, doi. 10.1177/2329048X19829520
- By:
- Publication type:
- Article
Risk factors for fractures and avascular osteonecrosis in type 1 Gaucher disease: A study from the International Collaborative Gaucher Group (ICGG) Gaucher Registry.
- Published in:
- Journal of Bone & Mineral Research, 2012, v. 27, n. 8, p. 1839, doi. 10.1002/jbmr.1680
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- Publication type:
- Article
Side alternating vibration training in patients with mitochondrial disease: a pilot study.
- Published in:
- Archives of Physiotherapy, 2017, v. 7, p. 1, doi. 10.1186/s40945-017-0038-4
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- Publication type:
- Article
Cou Cou, flying fish and a whole exome please... lessons learned from genetic testing in Barbados.
- Published in:
- Pan African Medical Journal, 2021, v. 38, p. 1, doi. 10.11604/pamj.2021.38.111.27969
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- Publication type:
- Article
Tissue Specific Impacts of a Ketogenic Diet on Mitochondrial Dynamics in the BTBR<sup>T+tf/j</sup> Mouse.
- Published in:
- Frontiers in Physiology, 2016, v. 7, p. 1, doi. 10.3389/fphys.2016.00654
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- Publication type:
- Article
Pathogenicity of two COQ7 mutations and responses to 2,4-dihydroxybenzoate bypass treatment.
- Published in:
- Journal of Cellular & Molecular Medicine, 2017, v. 21, n. 10, p. 2329, doi. 10.1111/jcmm.13154
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- Publication type:
- Article
Critically High Plasma Ammonia in an Adolescent Girl.
- Published in:
- Clinical Chemistry, 2016, v. 62, n. 12, p. 1565, doi. 10.1373/clinchem.2016.259473
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- Publication type:
- Article
Gender-specific plasma proteomic biomarkers in patients with Anderson-Fabry disease.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Gender-specific plasma proteomic biomarkers in patients with Anderson-Fabry disease.
- Published in:
- European Journal of Heart Failure, 2015, v. 17, n. 3, p. 291, doi. 10.1002/ejhf.230
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- Publication type:
- Article
Activation of the cGAS-STING innate immune response in cells with deficient mitochondrial topoisomerase TOP1MT.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 15, p. 2422, doi. 10.1093/hmg/ddad062
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- Publication type:
- Article
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.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Spectrum of microarchitectural bone disease in inborn errors of metabolism: a cross-sectional, observational study.
- Published in:
- 2020
- By:
- Publication type:
- journal article
104-week efficacy and safety of cipaglucosidase alfa plus miglustat in adults with late-onset Pompe disease: a phase III open-label extension study (ATB200-07).
- Published in:
- Journal of Neurology, 2024, v. 271, n. 5, p. 2810, doi. 10.1007/s00415-024-12236-0
- By:
- Publication type:
- Article
The phenotypic spectrum of KCNT1: a new family with variable epilepsy syndromes including mild focal epilepsy.
- Published in:
- Journal of Neurology, 2022, v. 269, n. 4, p. 2162, doi. 10.1007/s00415-021-10808-y
- By:
- Publication type:
- Article
Phenotype and pathology of the dilated cardiomyopathy with ataxia syndrome in children.
- Published in:
- Journal of Inherited Metabolic Disease, 2022, v. 45, n. 2, p. 366, doi. 10.1002/jimd.12441
- By:
- Publication type:
- Article
Elevated Inflammatory Plasma Biomarkers in Patients With Fabry Disease: A Critical Link to Heart Failure With Preserved Ejection Fraction.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Anterior Hypopituitarism and Treatment Response in Hunter Syndrome: A Comparison of Two Patients.
- Published in:
- 2016
- By:
- Publication type:
- Case Study
Normal left-atrial structure and function despite concentric left-ventricular remodelling in a cohort of patients with Anderson--Fabry disease.
- Published in:
- European Heart Journal - Cardiovascular Imaging, 2015, v. 16, n. 10, p. 1129, doi. 10.1093/ehjci/jev057
- By:
- Publication type:
- Article
Reduced Right Ventricular Native Myocardial T<sub>1</sub> in Anderson-Fabry Disease: Comparison to Pulmonary Hypertension and Healthy Controls.
- Published in:
- PLoS ONE, 2016, v. 11, n. 6, p. 1, doi. 10.1371/journal.pone.0157565
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- Publication type:
- Article
Transformation in pretreatment manifestations of Gaucher disease type 1 during two decades of alglucerase/imiglucerase enzyme replacement therapy in the International Collaborative Gaucher Group (ICGG) Gaucher Registry.
- Published in:
- American Journal of Hematology, 2017, v. 92, n. 9, p. 929, doi. 10.1002/ajh.24801
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- Publication type:
- Article
Mesenchymal Stem Cells Shift Mitochondrial Dynamics and Enhance Oxidative Phosphorylation in Recipient Cells.
- Published in:
- Frontiers in Physiology, 2018, p. N.PAG, doi. 10.3389/fphys.2018.01572
- By:
- Publication type:
- Article
Alpers Syndrome: The Natural History of a Case Highlighting Neuroimaging, Neuropathology, and Fat Metabolism.
- Published in:
- 2012
- By:
- Publication type:
- Case Study
Congenital Muscle Fiber-Type Disproportion in a Patient With Congenital Central Hypoventilation Syndrome Due to PHOX2B Mutations.
- Published in:
- Journal of Child Neurology, 2008, v. 23, n. 7, p. 829, doi. 10.1177/0883073808314895
- By:
- Publication type:
- Article
A novel WFS1 variant associated with isolated congenital cataracts.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2023, v. 9, n. 1, p. 1, doi. 10.1101/mcs.a006259
- By:
- Publication type:
- Article
Side-Alternating Vibration Training Improves Muscle Performance in a Patient with Late-Onset Pompe Disease.
- Published in:
- 2009
- By:
- Publication type:
- Case Study
Primary Hyperparathyroidism: An Overview.
- Published in:
- International Journal of Endocrinology, 2011, p. 1, doi. 10.1155/2011/251410
- By:
- Publication type:
- Article
Enhanced stem cell engraftment and modulation of hepatic reactive oxygen species production in diet-induced obesity.
- Published in:
- Obesity (19307381), 2014, v. 22, n. 3, p. 721, doi. 10.1002/oby.20580
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- Publication type:
- Article
Health Care for Mitochondrial Disorders in Canada: A Survey of Physicians.
- Published in:
- Canadian Journal of Neurological Sciences, 2019, v. 46, n. 6, p. 717, doi. 10.1017/cjn.2019.240
- By:
- Publication type:
- Article
Pompe Disease: Diagnosis and Management. Evidence-Based Guidelines from a Canadian Expert Panel.
- Published in:
- Canadian Journal of Neurological Sciences, 2016, v. 43, n. 4, p. 472, doi. 10.1017/cjn.2016.37
- By:
- Publication type:
- Article
Niemann Pick C: First Case in a Canadian Nakoda Nation Child.
- Published in:
- Canadian Journal of Neurological Sciences, 2014, v. 41, n. 4, p. 518, doi. 10.1017/S0317167100018606
- By:
- Publication type:
- Article
Endothelial ultrastructural alterations of intramuscular capillaries in infantile mitochondrial cytopathies: 'Mitochondrial angiopathy'.
- Published in:
- Neuropathology, 2012, v. 32, n. 6, p. 617, doi. 10.1111/j.1440-1789.2012.01308.x
- By:
- Publication type:
- Article
Lentivirus-mediated gene therapy for Fabry disease.
- Published in:
- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-21371-5
- By:
- Publication type:
- Article