Case Studies
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- Category: The Research
- Published on Wednesday, 18 November 2009 18:55
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By systematically examining patients cases, collecting data, analyzing information, and reporting the results we gain a sharpened understanding of the condition. The gained experience adds to knowledge, serving the medical community and the general population at large.
A list of published articles based on observational studies:
2009:
- Clarke JTR, Berthier MT, Auray-Blais C. Introduction à la biochimie génétique. Ann Biol Clin Qué, in press.
- Pigeon N, Campeau PM, Cyr D, Lemieux B, Clarke JTR. Clinical heterogeneity in ethylmalonic encephalopathy. J Child Neurol., in press.
- Rohrbach M, Chitayat D, Maegawa G, Shanske S, Davidzon G, Chong K, Clarke JTR, Toi A, Tarnopolsky M, Robinson B, Blaser S. Intracerebral periventricular pseudocysts in a fetus with mitochondrial depletion syndrome: an association or coincidence. Fetal Diagn Ther 2009;25:177-82.
2008:
- Al-Jasmi F, Abdelhaleem M, Stockley T, Wilson GJ, Lee K-S, Clarke JTR. Novel mutation of the perforin gene and maternal uniparental disomy 10 in a patient with familial hemophagocytic lymphohistiocytosis. J Pediatr Hematol Oncol 2008;30:621-4.
- Maegawa GHB, Poplawski NK, Storstein Andersen B, Olpin SE, Nie G, Clarke JTR, Teshima I. Interstitial deletion of 1p22.2p31.1 and medium-chain acyl-CoA dehydrogenase deficiency in a patient with global developmental delay. Am J Med Genet Part A 2008;146:1581-6.
2007:
- Oudit GY, Butany J, Williams WG, Siu SC, Clarke JTR, Iwanochko RM. Left ventricular aneurysm in a patient with mucopolysaccharidosistype VI (Maroteaux-Lamy syndrome): clinical and pathological correlation. Cardiovasc Pathol 2007;16:237-40.
- Oudit GY, Butany J, Williams WG, Clarke JTR, Iwanochko RM. Left ventricular aneurysm associated with mucopolysaccharidosistype VI syndrome (Maroteaux-Lamy syndrome). Circulation 2007;115:e60-2.
- Morel CF, Gassas A, Doyle J, Clarke JTR. Unsuccessful treatment attempt: Cord blood stem cell transplantation in a patient with Niemann-Pick type A. J Inher Metab Dis 2007;30:987.
2006:
- Glass H, Feigenbaum A, Clarke JTR. A study on the nature of genetic metabolic medical practice at a major pediatric referral centre. J Inherit Metab Dis 2006;29:175-8.
- Clarke JTR. Is the current Canadian approach to reviewing new drugs condemning the victims of rare diseases to death? A call for a national orphan drug policy. Can Med Assoc J 2006;174:189-90.
- Mustafa A, Clarke JTR. Ornithine transcarbamoylase deficiency presenting with acute liver failure. J Inherit Metab Dis 2006;29:586.
2005:
- Unger S, Paul DA, McKay C, Miller S, Sochett E, Clarke JTR, Cole DEC. Mucolipidosis II (I-cell disease) presenting as severe neonatal hyperparathyroidism. Eur J Pediatr 2005;164:236-43.
- Weinstein M, Schollen E, Matthijs G, Neupert C, Hennet T, Grubenmann CE, Frank CG, Aebi M, Clarke JTR, Griffiths A, Seargeant L, Poplawski N. CDG-Il: An infant with a novel mutation in the ALG9 gene and additional phenotypic features. Am J Med Genet 2005;136A:194-7.
2004:
- Giacomini PS, Shannon PT, Clarke JTR, Jaigobin C. Fabry’s disease presenting as stroke in a young female. Can J Neurol Sci 2004;31: 112-4.
- Tumer Z, Horn N, Tonnesen T, Christodoulou J, Clarke JT, Sarkar B. Gene symbol: ATP7A. Disease: Menkes disease. Hum Genet 2004;114:606.
2003:
- Gassas A, Sung L, Doyle JJ, Clarke JTR, Saunders EF. Life-threatening pulmonary hemorrhages post bone marrow transplantation in Hurler syndrome. Report of three cases and review of the literature. Bone Marrow Transplant 2003;32:213-5.
- Hewson S, Clarke JTR, Cederbaum S. Prenatal diagnosis of arginase deficiency: A case report. J Inher Metab Dis 2003;26:607-10.
2002:
- Armstrong L, Clarke JTR. Report of a new case of ‘genitopatellar’ syndrome which challenges importance of absent patella as a defining feature. J Med Genet 2002;39:933-4.
2001:
- Chow GCS, Clarke JTR, Banwell BL. Late-onset GM2 gangliosidosis presenting as burning dysesthesias. Pediat Neurol 2001;25:59-61.
- Choong K, Clarke JTR, Cutz E, Pollitt RJ, Olpin SE. Lethal cardiac tachyarrhythmia in a patient with neonatal carnitine-acylcarnitine translocase deficiency. Pediat Devel Pathol 2001;4:573-9.