Natural course of Fabry disease: changing pattern of causes of death in FOS – Fabry Outcome Survey von Mehta, A, Clarke, J T R, Giugliani, R, Elliott, P, Linhart, A, Beck, M, Sunder-Plassmann, G

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Proposed high-risk screening protocol for Fabry disease in patients with renal and vascular disease von Auray-Blais, C, Millington, D. S, Young, S. P, Clarke, J. T. R, Schiffmann, R

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Validation of the finding of hypertrophy of the clava in infantile neuroaxonal dystrophy/PLA2G6 by biometric analysis von Al-Maawali, A., Yoon, G., Feigenbaum, A. S., Halliday, W. C., Clarke, J. T. R., Branson, H. M, Banwell, B. L., Chitayat, D., Blaser, Susan I.

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Unsuccessful treatment attempt: Cord blood stem cell transplantation in a patient with Niemann–Pick disease type A von Morel, C. F., Gassas, A., Doyle, J., Clarke, J. T. R.

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Enzyme replacement therapy with agalsidase alfa in patients with Fabry's disease: an analysis of registry data von Mehta, A, Dr, Beck, M, Prof, Elliott, P, FRCP, Giugliani, R, Prof, Linhart, A, Prof, Sunder-Plassmann, G, Prof, Schiffmann, R, Prof, Barbey, F, MD, Ries, M, MD, Clarke, JTR, Prof

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Outcomes of patients treated through the Canadian Fabry disease initiative von Sirrs, S.M., Bichet, D.G., Casey, R., Clarke, J.T.R., Lemoine, K., Doucette, S., West, M.L.

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Experience with the treatment of argininosuccinic aciduria during pregnancy von Reid, L., Perreault, É., Lafrance, G., Clarke, J. T. R.

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Intracerebral Periventricular Pseudocysts in a Fetus with Mitochondrial Depletion Syndrome: An Association or Coincidence von Rohrbach, M., Chitayat, D., Maegawa, G., Shanske, S., Davidzon, G., Chong, K., Clarke, J.T.R., Toi, A., Tarnopolsky, M., Robinson, B., Blaser, S.

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Gaucher disease: Variability in phenotype among siblings von Amato, D., Stachiw, T., Clarke, J. T. R., Rivard, G. E.

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A study on the nature of genetic metabolic practice at a major paediatric referral centre von Glass, H. C., Feigenbaum, A., Clarke, J. T. R.

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Baseline characteristics of patients enrolled in the Canadian Fabry Disease Initiative von Sirrs, S., Clarke, J.T.R., Bichet, D.G., Casey, R., Lemoine, K., Flowerdew, G., Sinasac, D.S., West, M.L.

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Prenatal diagnosis for arginase deficiency: A case study von Hewson, S., Clarke, J. T. R., Cederbaum, S.

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Peripheral and autonomic nervous system involvement in chronic GM2‐gangliosidosis von Salman, M. S., Clarke, J. T. R., Midroni, G., Waxman, M. B.

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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,... von McCready, M.E., Carson, N.L., Chakraborty, P., Clarke, J.T.R., Callahan, J.W., Skomorowski, M.A., Chan, A.K.J., Bamforth, F., Casey, R., Rupar, C.A., Geraghty, M.T.

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Report of a new case of “genitopatellar” syndrome which challenges the importance of absent patellae as a defining feature von Armstrong, L, Clarke, J T R

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MRI appearances of hip abnormalities in mucolipidosis, type III von WIHLBORG, C. E. M, BABYN, P. S, CLARKE, J. T. R

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Life-threatening pulmonary hemorrhages post bone marrow transplantation in Hurler syndrome. Report of three cases and review of the literature von GASSAS, A, SUNG, L, DOYLE, J. J, CLARKE, J. T. R, SAUNDERS, E. Fred

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Randomised controlled trial of tyrosine supplementation on neuropsychological performance in phenylketonuria von Smith, Mary Lou, Hanley, William B, Clarke, Joe T R, Klim, Paula, Schoonheyt, Wanda, Austin, Valerie, Lehotay, Denis C

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Short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency in muscle: A new cause for recurrent myoglobinuria and encephalopathy von Tein, I., De Vivo, D. C., Hale, D. E., Clarke, J. T. R., Zinman, H., Laxer, R., Shore, A., Dimauro, S.

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Identification of an altered splice site in Ashkenazi Tay-Sachs disease von Arpaia, E, Dumbrille-Ross, A, Maler, T, Neote, K, Tropak, M, Troxel, C, Stirling, J. L, Pitts, J. S, Bapat, B, Lamhonwah, A. M, Mahuran, D. J, Schuster, S. M, Clarke, J. T. R, Lowden, J. A, Gravel, R. A

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