publication venue for
- Expanding the Genetic Spectrum of Cytosolic Phosphoenolpyruvate Carboxykinase Deficiency 2021
- Long-Term Follow-up for Patients with Mitochondrial Carbonic Anhydrase 5A Deficiency 2021
- A NOVEL PHASE 2A STUDY DESIGN TO INVESTIGATE THE EFFECT OF AT2220 (DUVOGLUSTAT HCL) ON THE PHARMACOKINETICS OF ACID ALPHA-GLUCOSIDASE IN SUBJECTS WITH POMPE DISEASE 2012
- AN ONGOING PHASE 2A STUDY TO INVESTIGATE THE EFFECT OF AT2220 (DUVOGLUSTAT HCL) ON THE PHARMACOKINETICS OF ACID ALPHA-GLUCOSIDASE IN SUBJECTS WITH POMPE DISEASE: PRELIMINARY RESULTS 2012
- PATHOLOGICAL EXAMINATION OF THE LUNG IN A FABRY PATIENT ON ENZYME REPLACEMENT THERAPY 2012
- TRANSIENT NEONATAL HYPERPARATHYROIDISM: A PRESENTING FEATURE OF SIALIDOSIS TYPE II 2012
- RESVERATROL FOR THE CORRECTION OF MITOCHONDRIAL DISORDERS 2011
- Abnormal fatty acid metabolism in childhood spinal muscular atrophy (SMA) may predispose to perioperative risks for mitochondrial decompensation and liver failure 2008
- No longer just an intermediate: Cystathionine protects against endoplasmic reticulum stress induced lipid accumulation and apoptotic cell death 2008
- Decreased ventilator use in a 27-year-old man with late-onset Pompe disease within one year of using alglucosidase-alfa 2007
- Sjogren-Larsson syndrome: Motor performance and everyday functioning 2007
- Glucose levels controlled with an insulin pump in a patient with combined glycogen storage disease type 1a and type 1 diabetes mellitus 2006
- Screening for HHH syndrome in northern Saskatchewan 2006
- Ten new patients with malonyl-coenzyme a decarboxylase (MCD) deficiency 2006
- IDENTIFYING NOVEL PHARMACOLOGICAL CHAPERONES FOR LYSOSOMAL DISEASES USING A HIGH THROUGHPUT APPROACH 2005
- Key terms and definitions in acute porphyrias: Results of an international Delphi consensus led by the European porphyria network. 46:662-674. 2023
-
A biallelic pathogenic variant in the
OGDH gene results in a neurological disorder with features of a mitochondrial disease. 44:388-400. 2021 - Erratum to: Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke project. 41:151-151. 2018
- Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke project. 40:403-414. 2017
- Natural disease course and genotype‐phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases. 35:737-747. 2012
- Variability in the clinical management of fatty acid oxidation disorders: results of a survey of Canadian metabolic physicians. 35:115-123. 2012
- Diagnosis and high incidence of hyperornithinemia‐hyperammonemia‐homocitrullinemia (HHH) syndrome in northern Saskatchewan. 33:275-281. 2010
- Clinical, enzymatic and molecular characterization of nine new patients with malonyl‐coenzyme A decarboxylase deficiency. 30:23-28. 2007
- Smith–Lemli–Opitz syndrome with a classical phenotype, oesophageal achalasia and borderline plasma sterol concentrations. 28:1191-1196. 2005
- Carnitine transporter defect due to a novel mutation in the SLC22A5 gene presenting with peripheral neuropathy. 27:778-780. 2004
- Long-chain hydroxydicarboxylic aciduria, carnitine depletion and acetaminophen exposure. 23:188-9. 2000
- Bone marrow involvement and obstructive jaundice in Farber lipogranulomatosis: clinical and autopsy report of a new case. 19:655-660. 1996
- Comparison of Urinary Acylglycines and Acylcarnitines as Diagnostic Markers of Medium‐chain Acyl‐CoA Dehydrogenase Deficiency. 12:325-328. 1989
- Biochemical variability of arylsulphatases‐A,‐B and‐C in cultured fibroblasts from patients with multiple sulphatase deficiency. 6:167-172. 1983