Joe R. Clarke
Toronto, ON, Canada
Last Updated: 09/26/2026
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Found 11 publications
Combined malonic and methylmalonic aciduria due to ACSF3 mutations: Benign clinical course in an unselected cohort.
Journal: Journal of inherited metabolic disease
Published: February 12, 2019
Long-term outcome of patients with X-linked adrenoleukodystrophy: A retrospective cohort study.
Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Published: October 25, 2016
Methylmalonyl-coA epimerase deficiency: A new case, with an acute metabolic presentation and an intronic splicing mutation in the MCEE gene.
Journal: Molecular genetics and metabolism reports
Published: August 11, 2016
Managing sickle cell carrier results generated through newborn screening in Ontario: a precedent-setting policy story.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: May 13, 2016
Application of a policy framework for the public funding of drugs for rare diseases.
Journal: Journal of general internal medicine
Published: July 18, 2014
Toward a functional definition of a "rare disease" for regulatory authorities and funding agencies.
Journal: Value in health : the journal of the International Society for Pharmacoeconomics and Outcomes Research
Published: April 08, 2014
Urinary biomarker investigation in children with Fabry disease using tandem mass spectrometry.
Journal: Clinica chimica acta; international journal of clinical chemistry
Published: March 13, 2014
Changes in plasma and urine globotriaosylceramide levels do not predict Fabry disease progression over 1 year of agalsidase alfa.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: February 12, 2013
Systolic myocardial mechanics in patients with Anderson-Fabry disease with and without left ventricular hypertrophy and in comparison to nonobstructive hypertrophic cardiomyopathy.
Journal: Echocardiography (Mount Kisco, N.Y.)
Published: April 14, 2012
An improved method for glycosaminoglycan analysis by LC-MS/MS of urine samples collected on filter paper.
Journal: Clinica chimica acta; international journal of clinical chemistry
Published: October 28, 2011
Showing 1-11 of 11
Last Updated: 09/26/2026