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Enzyme replacement therapy with agalsidase alfa in patients with Fabry's disease: an analysis of registry data

The Lancet (British edition), 2009-12, Vol.374 (9706), p.1986-1996

2009

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Enzyme replacement therapy for Fabry's disease – Authors' reply

The Lancet (British edition), 2010, Vol.375 (9725), p.1523-1524

2010

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Outcomes of patients treated through the Canadian Fabry disease initiative

Molecular genetics and metabolism, 2014-04, Vol.111 (4), p.499-506

2014

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Validation of the finding of hypertrophy of the clava in infantile neuroaxonal dystrophy/PLA2G6 by biometric analysis

Neuroradiology, 2016-10, Vol.58 (10), p.1035-1042

2016

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Is the current approach to reviewing new drugs condemning the victims of rare diseases to death? A call for a national orphan drug review policy

Canadian Medical Association journal (CMAJ), 2006-01, Vol.174 (2), p.189

Clarke, Joe T R

2006

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Baseline characteristics of patients enrolled in the Canadian Fabry Disease Initiative

Molecular genetics and metabolism, 2010-04, Vol.99 (4), p.367-373

2010

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Genomic Rearrangements Resulting in PLP1 Deletion Occur by Nonhomologous End Joining and Cause Different Dysmyelinating Phenotypes in Males and Females

American journal of human genetics, 2002-10, Vol.71 (4), p.838-853

2002

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Gaucher disease type 1: Revised recommendations on evaluations and monitoring for adult patients

Seminars in hematology, 2004-10, Vol.41 (4 Suppl 5), p.15-22

2004

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The pharmacology of multiple regimens of agalsidase alfa enzyme replacement therapy for Fabry disease

Genetics in medicine, 2007-08, Vol.9 (8), p.504-509

2007

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Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype

Human mutation, 2002-10, Vol.20 (4), p.284-297

2002

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Development of a clinical assay for detection of GAA mutations and characterization of the GAA mutation spectrum in a Canadian cohort of individuals with glycogen storage disease, type II

Molecular genetics and metabolism, 2007-12, Vol.92 (4), p.325-335

2007

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The Maternal Phenylketonuria Project: a summary of progress and challenges for the future

Pediatrics (Evanston), 2003-12, Vol.112 (6 Pt 2), p.1584

Clarke, Joe T R

2003

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Intracerebral Periventricular Pseudocysts in a Fetus with Mitochondrial Depletion Syndrome: An Association or Coincidence

Fetal diagnosis and therapy, 2009-01, Vol.25 (2), p.177-182

2009

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Unsuccessful treatment attempt: Cord blood stem cell transplantation in a patient with Niemann–Pick disease type A

Journal of inherited metabolic disease, 2007-11, Vol.30 (6), p.987-987

2007

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CDG‐IL: An infant with a novel mutation in the ALG9 gene and additional phenotypic features

American journal of medical genetics. Part A, 2005-07, Vol.136A (2), p.194-197

2005

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Enzyme replacement therapy of Fabry disease

Molecular neurobiology, 2005-08, Vol.32 (1), p.43-50

2005

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Gaucher disease: Variability in phenotype among siblings

Journal of inherited metabolic disease, 2004-01, Vol.27 (5), p.659-669

2004

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Mucolipidosis II presenting as severe neonatal hyperparathyroidism

European journal of pediatrics, 2005-04, Vol.164 (4), p.236-243

2005

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Phenylalanine requirement in children with classical PKU determined by indicator amino acid oxidation

American journal of physiology: endocrinology and metabolism, 2002-12, Vol.283 (6), p.E1249-E1256

2002

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Report of a new case of “genitopatellar” syndrome which challenges the importance of absent patellae as a defining feature

Journal of medical genetics, 2002-12, Vol.39 (12), p.933-934

2002

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Managing public payment for high-cost, high-benefit treatment: enzyme replacement therapy for Gaucher's disease in Ontario

Canadian Medical Association journal (CMAJ), 2001-09, Vol.165 (5), p.595

2001

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Clinical and genetic aspects of trigonocephaly: A study of 25 cases

American journal of medical genetics. Part A, 2003-03, Vol.117A (2), p.127-135

2003

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Copper-histidine therapy for Menkes disease

The Journal of pediatrics, 1993-11, Vol.123 (5), p.828-830

1993

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A study on the nature of genetic metabolic practice at a major paediatric referral centre

Journal of inherited metabolic disease, 2006-02, Vol.29 (1), p.175-178

2006

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Life-threatening pulmonary hemorrhages post bone marrow transplantation in Hurler syndrome. Report of three cases and review of the literature

Bone marrow transplantation (Basingstoke), 2003-07, Vol.32 (2), p.213-215

2003

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Enzyme replacement therapy with agalsidase alfa in patients with Fabry's disease: an analysis of registry data

Enzyme replacement therapy for Fabry's disease – Authors' reply

Outcomes of patients treated through the Canadian Fabry disease initiative

Validation of the finding of hypertrophy of the clava in infantile neuroaxonal dystrophy/PLA2G6 by biometric analysis

Is the current approach to reviewing new drugs condemning the victims of rare diseases to death? A call for a national orphan drug review policy

Baseline characteristics of patients enrolled in the Canadian Fabry Disease Initiative

Genomic Rearrangements Resulting in PLP1 Deletion Occur by Nonhomologous End Joining and Cause Different Dysmyelinating Phenotypes in Males and Females

Gaucher disease type 1: Revised recommendations on evaluations and monitoring for adult patients

The pharmacology of multiple regimens of agalsidase alfa enzyme replacement therapy for Fabry disease

Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype

Development of a clinical assay for detection of GAA mutations and characterization of the GAA mutation spectrum in a Canadian cohort of individuals with glycogen storage disease, type II

The Maternal Phenylketonuria Project: a summary of progress and challenges for the future

Intracerebral Periventricular Pseudocysts in a Fetus with Mitochondrial Depletion Syndrome: An Association or Coincidence

Unsuccessful treatment attempt: Cord blood stem cell transplantation in a patient with Niemann–Pick disease type A

CDG‐IL: An infant with a novel mutation in the ALG9 gene and additional phenotypic features

Enzyme replacement therapy of Fabry disease

Gaucher disease: Variability in phenotype among siblings

Mucolipidosis II presenting as severe neonatal hyperparathyroidism

Phenylalanine requirement in children with classical PKU determined by indicator amino acid oxidation

Report of a new case of “genitopatellar” syndrome which challenges the importance of absent patellae as a defining feature

Managing public payment for high-cost, high-benefit treatment: enzyme replacement therapy for Gaucher's disease in Ontario

Clinical and genetic aspects of trigonocephaly: A study of 25 cases

Copper-histidine therapy for Menkes disease

A study on the nature of genetic metabolic practice at a major paediatric referral centre

Life-threatening pulmonary hemorrhages post bone marrow transplantation in Hurler syndrome. Report of three cases and review of the literature

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