Erythropoietic Protoporphyria: Spectrum of Three CasesBERTRAND, Janie; CLARKE, Joe T. R; HANNA, Dominique et al.Journal of cutaneous medicine and surgery. 2012, Vol 16, Num 5, pp 311-316, issn 1203-4754, 6 p.Article

Treatment of Lysosomal Storage Disorders : Progress with Enzyme Replacement TherapyROHRBACH, Marianne; CLARKE, Joe T. R.Drugs (Basel). 2007, Vol 67, Num 18, pp 2697-2716, issn 0012-6667, 20 p.Article

Toward a Functional Definition of a Rare Disease for Regulatory Authorities and Funding AgenciesCLARKE, Joe T. R; COYLE, Doug; EVANS, Gerald et al.Value in health. 2014, Vol 17, Num 8, pp 757-761, issn 1098-3015, 5 p.Article

Late-Onset GM2 gangliosidosis presenting as burning dysesthesiasCHOW, Gabriel C. S; CLARKE, Joe T. R; BANWELL, Brenda L et al.Pediatric neurology. 2001, Vol 25, Num 1, pp 59-61, issn 0887-8994Article

Urinary Globotriaosylsphingosine-Related Biomarkers for Fabry Disease Targeted by MetabolomicsAURAY-BLAIS, Christiane; BOUTIN, Michel; GAGNON, René et al.Analytical chemistry (Washington). 2012, Vol 84, Num 6, pp 2745-2753, issn 0003-2700, 9 p.Article

Late onset leigh syndrome and ataxia due to a T to C mutation at bp 9,185 of mitochondrial DNACASTAGNA, Avril E; ADDIS, Jane; MCINNES, Roderick R et al.American journal of medical genetics. Part A. 2007, Vol 143, Num 8, pp 808-816, issn 1552-4825, 9 p.Article

Four-Year Prospective Clinical Trial of Agalsidase Alfa in Children with Fabry DiseaseSCHIFFMANN, Raphael; MARTIN, Rick A; REIMSCHISEL, Tyler et al.The Journal of pediatrics. 2010, Vol 156, Num 5, pp 832-837, issn 0022-3476, 6 p.Article

CDG-IL : An infant with a novel mutation in the ALG9 gene and additional phenotypic featuresWEINSTEIN, Michael; SCHOLLEN, Els; SEARGEANT, Lorne et al.American journal of medical genetics. 2005, Vol 136A, Num 2, pp 194-197, issn 0148-7299, 4 p.Article

Mucolipidosis II presenting as severe neonatal hyperparathyroidismUNGER, Sheila; PAUL, David A; NINO, Michelle C et al.European journal of pediatrics. 2005, Vol 164, Num 4, pp 236-243, issn 0340-6199, 8 p.Article

Application of a Policy Framework for the Public Funding of Drugs for Rare DiseasesWINQUIST, Eric; COYLE, Doug; CLARKE, Joe T. R et al.Journal of general internal medicine. 2014, Vol 29, issn 0884-8734, S774-S779, SUP3Article

Agalsidase Alfa and Kidney Dysfunction in Fabry DiseaseWEST, Michael; NICHOLLS, Kathy; SCHIFFMANN, Raphael et al.Journal of the American Society of Nephrology. 2009, Vol 20, Num 5, pp 1132-1139, issn 1046-6673, 8 p.Article

Interstitial Deletion of 1p22.2p31.1 and Medium-Chain Acyl-CoA Dehydrogenase Deficiency in a Patient With Global Developmental DelayMAEGAWA, Gustavo H. B; POPLAWSKI, Nicola K; ANDRESEN, Brage Storstein et al.American journal of medical genetics. Part A. 2008, Vol 146, Num 12, pp 1581-1586, issn 1552-4825, 6 p.Article

Use of Urinary Globotriaosylceramide for Fabry Disease Screening in CanadaAURAY-BLAIS, Christiane; CYR, Denis; DROUIN, Régen et al.Clinical therapeutics. 2008, Vol 30, issn 0149-2918, S79-S80, SUPCConference Paper

Total branched-chain amino acids requirement in patients with maple syrup urine disease by use of indicator amino acid oxidation with L-[1-¹³C]phenylalanineRIAZI, Roya; RAFII, Mahroukh; CLARKE, Joe T. R et al.American journal of physiology. Endocrinology and metabolism. 2004, Vol 50, Num 1, pp E142-E149, issn 0193-1849Article