Found: 32
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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
Defects in fatty acid amide hydrolase 2 in a male with neurologic and psychiatric symptoms.
- Published in:
- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0248-3
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- Publication type:
- Article
Defects in fatty acid amide hydrolase 2 in a male with neurologic and psychiatric symptoms.
- Published in:
- 2015
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- Publication type:
- journal article
Hematopoietic Stem Cell Transplantation in Late-Onset Krabbe Disease: No Evidence of Worsening Demyelination and Axonal Loss 4 Years Post-allograft.
- Published in:
- 2018
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- Publication type:
- journal article
Carnitine deficiency presenting with encephalopathy and hyperammonemia in a patient receiving chronic enteral tube feeding: a case report.
- Published in:
- 2012
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- Publication type:
- journal article
A co-occurrence of osteogenesis imperfecta type VI and cystinosis.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 6, p. 1422, doi. 10.1002/ajmg.a.35319
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- Publication type:
- Article
When zebras run with horses - inherited metabolic diseases come mainstream.
- Published in:
- Reviews in Endocrine & Metabolic Disorders, 2018, v. 19, n. 1, p. 1, doi. 10.1007/s11154-018-9456-1
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- Publication type:
- Article
Consensus clinical management guidelines for Niemann-Pick disease type C.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Primer on mitochondrial disease: Biochemistry, genetics, and epidemiology.
- Published in:
- British Columbia Medical Journal, 2011, v. 53, n. 4, p. 172
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- Publication type:
- Article
Diagnosis and management of patients with mitochondrial disease.
- Published in:
- British Columbia Medical Journal, 2011, v. 53, n. 4, p. 177
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- Publication type:
- Article
Mitochondrial disease clinical manifestations: An overview.
- Published in:
- British Columbia Medical Journal, 2011, v. 53, n. 4, p. 183
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- Publication type:
- Article
MR evidence of long T<sub>2</sub> water in pathological white matter.
- Published in:
- Journal of Magnetic Resonance Imaging, 2007, v. 26, n. 4, p. 1117, doi. 10.1002/jmri.21132
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- Publication type:
- Article
Training competencies in adult metabolic medicine: A survey of working adult metabolic medicine physicians.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2022, v. 63, n. 5, p. 468, doi. 10.1002/jmd2.12312
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- Publication type:
- Article
Federal Funding for Expensive Drugs for Rare Diseases: How Do We Pick and Choose?
- Published in:
- Healthcare Policy, 2024, v. 19, n. 4, p. 19, doi. 10.12927/hcpol.2024.27334
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- Publication type:
- Article
Registries for orphan drugs: generating evidence or marketing tools?
- Published in:
- 2020
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- Publication type:
- journal article
The right tool for the job—Fit for purpose training programs in adult metabolic medicine.
- Published in:
- Journal of Inherited Metabolic Disease, 2022, v. 45, n. 5, p. 864, doi. 10.1002/jimd.12511
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- Publication type:
- Article
Lost in translation—Challenges in drug development for inherited metabolic diseases.
- Published in:
- Journal of Inherited Metabolic Disease, 2022, v. 45, n. 3, p. 381, doi. 10.1002/jimd.12501
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- Publication type:
- Article
Transplantation as disease modifying therapy in adults with inherited metabolic disorders.
- Published in:
- Journal of Inherited Metabolic Disease, 2018, v. 41, n. 5, p. 885, doi. 10.1007/s10545-018-0141-z
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- Publication type:
- Article
Performance of serum and dried blood spot acylcarnitine profiles for detection of fatty acid β-oxidation disorders in adult patients with rhabdomyolysis.
- Published in:
- Journal of Inherited Metabolic Disease, 2014, v. 37, n. 2, p. 207, doi. 10.1007/s10545-012-9578-7
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- Publication type:
- Article
Cardiovascular and Metabolic Effects of Medroxyprogesterone Acetate versus Conjugated Equine Estrogen After Premenopausal Hysterectomy with Bilateral Ovariectomy.
- Published in:
- Pharmacotherapy, 2010, v. 30, n. 5, p. 442, doi. 10.1592/phco.30.5.442
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- Publication type:
- Article
Variation in chitotriosidase values measured on simultaneous samples by two commercial laboratories.
- Published in:
- American Journal of Hematology, 2013, v. 88, n. 11, p. 980, doi. 10.1002/ajh.23542
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- Publication type:
- Article
Anaesthesia for phaeochromocytoma in pregnancy.
- Published in:
- Canadian Journal of Anaesthesia / Journal Canadien d'Anesthésie, 1997, v. 44, n. 6, p. 654, doi. 10.1007/BF03015450
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- Publication type:
- Article
Post-transplant diabetic ketoacidosis - A possible consequence of immunosuppression with calcineurin inhibiting agents: A case series.
- Published in:
- Transplant International, 2000, v. 13, n. 1, p. 69, doi. 10.1111/j.1432-2277.2000.tb01039.x
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- Publication type:
- Article
Primary Hyperparathyroidism: An Overview.
- Published in:
- International Journal of Endocrinology, 2011, p. 1, doi. 10.1155/2011/251410
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- Publication type:
- Article
Subcutaneous versus intraperitoneal insulin for patients with diabetes mellitus on continuous ambulatory peritoneal dialysis: meta-analysis of non-randomized clinical trials.
- Published in:
- 2012
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- Publication type:
- journal article
Subcutaneous versus intraperitoneal insulin for patients with diabetes mellitus on continuous ambulatory peritoneal dialysis: Meta-analysis of non-randomized clinical trials.
- Published in:
- Clinical & Investigative Medicine, 2012, v. 35, n. 3, p. E132, doi. 10.25011/cim.v35i3.16589
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- Publication type:
- Article
Three years experience with dried blood spot α-glucosidase screening for Pompe disease in British Columbia, Canada.
- Published in:
- 2013
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- Publication type:
- Abstract
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
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- Publication type:
- Article
Phenotypic Variability of Krabbe Disease Across the Lifespan.
- Published in:
- Canadian Journal of Neurological Sciences, 2014, v. 41, n. 1, p. 5, doi. 10.1017/S0317167100016188
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- Publication type:
- Article
Variability of Phenotype in Two Sisters with Pyridoxine Dependent Epilepsy.
- Published in:
- Canadian Journal of Neurological Sciences, 2012, v. 39, n. 4, p. 516, doi. 10.1017/S0317167100014050
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- Publication type:
- Article
Multisystem Disorder in Late-Onset Chronic Progressive External Ophthalmoplegia.
- Published in:
- Canadian Journal of Neurological Sciences, 2011, v. 38, n. 1, p. 119, doi. 10.1017/S031716710001115X
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- Publication type:
- Article
Recurrent exercise-induced rhabdomyolysis.
- Published in:
- 2012
- By:
- Publication type:
- Case Study