Search Results - "TR Clarke, Joe"

Hunter disease eClinic: interactive, computer-assisted, problem-based approach to independent learning about a rare genetic disease by Al-Jasmi, Fatma, Moldovan, Laura, Clarke, Joe T R

“…Computer-based teaching (CBT) is a well-known educational device, but it has never been applied systematically to the teaching of a complex, rare, genetic…”
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High-risk screening for Fabry disease in a Canadian cohort of chronic kidney disease patients by Auray-Blais, Christiane, Lavoie, Pamela, Abaoui, Mona, Côté, Anne-Marie, Boutin, Michel, Akbari, Ayub, Levin, Adeera, Mac-Way, Fabrice, TR Clarke, Joe

“…[Display omitted] •A high-risk screening study was performed for patients with chronic kidney disease.•Globotriaosylceramide (Gb3) was analyzed in dried urine…”
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Combined malonic and methylmalonic aciduria due to ACSF3 mutations: Benign clinical course in an unselected cohort by Levtova, Alina, Waters, Paula J., Buhas, Daniela, Lévesque, Sébastien, Auray‐Blais, Christiane, Clarke, Joe T.R., Laframboise, Rachel, Maranda, Bruno, Mitchell, Grant A., Brunel‐Guitton, Catherine, Braverman, Nancy E.

“…Background The clinical significance of combined malonic and methylmalonic aciduria due to ACSF3 deficiency (CMAMMA) is controversial. In most publications,…”
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A survey of the pain experienced by males and females with Fabry disease by Gibas, Andrea L, Klatt, Regan, Johnson, Jack, Clarke, Joe T R, Katz, Joel

“…The clinical onset of Fabry disease, a rare, X-linked, multisystemic disorder, is marked by neuropathic pain. Males suffer extensively from this disease…”
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An open-label Phase I/II clinical trial of pyrimethamine for the treatment of patients affected with chronic GM2 gangliosidosis (Tay–Sachs or Sandhoff variants) by Clarke, Joe T.R., Mahuran, Don J., Sathe, Swati, Kolodny, Edwin H., Rigat, Brigitte A., Raiman, Julian A., Tropak, Michael B.

“…Late-onset GM2 gangliosidosis is an autosomal recessive, neurodegenerative, lysosomal storage disease, caused by deficiency of ß-hexosaminidase A (Hex A),…”
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Long-term outcome of patients with X-linked adrenoleukodystrophy: a retrospective cohort study by Tran, Christel, MD, Patel, Jaina, Stacy, Hewson, Mamak, Eva G, Faghfoury, Hanna, Raiman, Julian, Clarke, Joe TR, Blaser, Susan, Mercimek-Mahmutoglu, Saadet

“…Abstract Background X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder associated with leukodystrophy, myeloneuropathy and adrenocortical…”
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Pyrimethamine as a Potential Pharmacological Chaperone for Late-onset Forms of GM2 Gangliosidosis by Maegawa, Gustavo H.B., Tropak, Michael, Buttner, Justin, Stockley, Tracy, Kok, Fernando, Clarke, Joe T.R., Mahuran, Don J.

“…Late-onset GM2 gangliosidosis is composed of two related, autosomal recessive, neurodegenerative diseases, both resulting from deficiency of lysosomal,…”
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X-linked adrenoleukodystrophy: ABCD1 de novo mutations and mosaicism by Wang, Ying, Busin, Rachel, Reeves, Catherine, Bezman, Lena, Raymond, Gerald, Toomer, Cicely J., Watkins, Paul A., Snowden, Ann, Moser, Ann, Naidu, Sakkubai, Bibat, Genila, Hewson, Stacy, Tam, Karen, Clarke, Joe T.R., Charnas, Lawrence, Stetten, Gail, Karczeski, Barbara, Cutting, Garry, Steinberg, Steven

“…X-linked adrenoleukodystrophy (X-ALD) is a progressive peroxisomal disorder affecting adrenal glands, testes and myelin stability that is caused by mutations…”
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An Evaluation Framework for Funding Drugs for Rare Diseases by Winquist, Eric, MD, MSc, Bell, Chaim M., MD, PhD, Clarke, Joe T.R., MD, Evans, Gerald, MD, Martin, Janet, PharmD, MSc, Sabharwal, Mona, PharmD, Gadhok, Anita, BScPharm, MBA, Stevenson, Helen, BComm, MSM, Coyle, Doug, PhD

“…Abstract Objectives For rare diseases it may be difficult to generate data from randomized trials to support funding of a drug. Enzyme replacement therapies…”
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Urinary globotriaosylceramide excretion correlates with the genotype in children and adults with Fabry disease by Auray-Blais, Christiane, Cyr, Denis, Ntwari, Aimé, West, Michael L., Cox-Brinkman, Josanne, Bichet, Daniel G., Germain, Dominique P., Laframboise, Rachel, Melançon, Serge B., Stockley, Tracy, Clarke, Joe T.R., Drouin, Régen

“…Fabry disease is a complex, multisystemic and clinically heterogeneous disease, in which the urinary excretion of globotriaosylceramide (Gb 3), the principal…”
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Changes in plasma and urine globotriaosylceramide levels do not predict Fabry disease progression over 1 year of agalsidase alfa by Schiffmann, Raphael, Ries, Markus, Blankenship, Derek, Nicholls, Kathy, Mehta, Atul, Clarke, Joe T.R., Steiner, Robert D., Beck, Michael, Barshop, Bruce A., Rhead, William, West, Michael, Martin, Rick, Amato, David, Nair, Nitin, Huertas, Pedro

“…Globotriaosylceramide concentrations were assessed as potential predictors of change from baseline after 12 months by estimated glomerular filtration rate and…”
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Clinical Heterogeneity in Ethylmalonic Encephalopathy by Pigeon, Nicole, Campeau, Philippe M., Cyr, Denis, Lemieux, Bernard, Clarke, Joe T. R.

“…Ethylmalonic encephalopathy is a recently described inborn error of metabolism characterized clinically by developmental delay and regression, recurrent…”
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Substrate reduction therapy in juvenile GM2 gangliosidosis by Maegawa, Gustavo H.B., Banwell, Brenda L., Blaser, Susan, Sorge, Geoffrey, Toplak, Maggie, Ackerley, Cameron, Hawkins, Cynthia, Hayes, Jason, Clarke, Joe T.R.

“…Substrate reduction therapy (SRT) is considered to be a potential therapeutic option for juvenile GM2 gangliosidosis (jGM2g). We evaluated the efficacy of SRT…”
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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 by Clarke, Joe T R

“…Many new therapies are so expensive that, without financial support from provincial drug plans, access to them is a practical impossibility. One way to deal…”
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A dose-optimization trial of laronidase (Aldurazyme ®) in patients with mucopolysaccharidosis I by Giugliani, Roberto, Rojas, Verónica Muñoz, Martins, Ana Maria, Valadares, Eugênia R., Clarke, Joe T.R., Góes, José E.C., Kakkis, Emil D., Worden, Mary Alice, Sidman, Marisa, Cox, Gerald F.

“…Recombinant human α- l-iduronidase (Aldurazyme ®, laronidase) is approved as an enzyme replacement therapy to treat the lysosomal storage disorder,…”
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Fabry disease urinary globotriaosylceramide/creatinine biomarker evaluation by liquid chromatography–tandem mass spectrometry in healthy infants from birth to 6 months by Barr, Caroline, Clarke, Joe T.R., Ntwari, Aimé, Drouin, Régen, Auray-Blais, Christiane

“…Fabry disease is an X-linked lysosomal storage disorder caused by deficiency of alpha-galactosidase A, resulting in accumulation of the principal substrate,…”
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The use of agalsidase alfa enzyme replacement therapy in the treatment of Fabry disease by Morel, Chantal F, Clarke, Joe T R

“…Fabry disease is an X-linked lysosomal storage disease caused by deficiency of alpha-galactosidase A (alpha-Gal A), encoded by the GLA gene. The deficiency…”
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Erythropoietic Protoporphyria: Spectrum of Three Cases by Bertrand, Janie, Clarke, Joe T.R., Hanna, Dominique

“…Background: Erythropoietic protoporphyria is a rare photodermatosis of childhood, and the diagnosis can be delayed. A deficient ferrochelatase enzyme leads to…”
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Pharmacokinetics, safety and tolerability of miglustat in the treatment of pediatric patients with GM2 gangliosidosis by Maegawa, Gustavo H.B., van Giersbergen, Paul L.M., Yang, Sandra, Banwell, Brenda, Morgan, Christopher P., Dingemanse, Jasper, Tifft, Cynthia J., Clarke, Joe T.R.

“…GM2 gangliosidosis (GM2g) is an inherited neurodegenerative disorder caused by deficiency of lysosomal β-hexosaminidase A, resulting in accumulation of GM2…”
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Efficient analysis of urinary glycosaminoglycans by LC-MS/MS in mucopolysaccharidoses type I and VI by Auray-Blais, Christiane, Bherer, Patrick, Gagnon, Rene, Young, Sarah P, Zhang, Haoyue H, An, Yan, Clarke, Joe TR, Millington, David S

“…Mucopolysaccharidoses (MPSs) are complex storage disorders caused by specific lysosomal enzyme deficiencies, resulting in the accumulation of…”
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