Search Results - "Clarke, T.R."

Identification and Characterization of Ambroxol as an Enzyme Enhancement Agent for Gaucher Disease by Maegawa, Gustavo H.B., Tropak, Michael B., Buttner, Justin D., Rigat, Brigitte A., Fuller, Maria, Pandit, Deepangi, Tang, Liangiie, Kornhaber, Gregory J., Hamuro, Yoshitomo, Clarke, Joe T.R., Mahuran, Don J.

“…Gaucher disease (GD), the most prevalent lysosomal storage disease, is caused by a deficiency of glucocerebrosidase (GCase). The identification of small…”
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The Natural History of Juvenile or Subacute GM2 Gangliosidosis: 21 New Cases and Literature Review of 134 Previously Reported by Maegawa, Gustavo H. B, Stockley, Tracy, Tropak, Michael, Banwell, Brenda, Blaser, Susan, Kok, Fernando, Giugliani, Roberto, Mahuran, Don, Clarke, Joe T.R

“…Juvenile GM2 gangliosidosis is a group of inherited neurodegenerative diseases caused by deficiency of lysosomal beta-hexosaminidase resulting in GM2…”
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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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UPLC-MS/MS detection of disaccharides derived from glycosaminoglycans as biomarkers of mucopolysaccharidoses by Auray-Blais, Christiane, Lavoie, Pamela, Tomatsu, Shunji, Valayannopoulos, Vassili, Mitchell, John J., Raiman, Julian, Beaudoin, Maxime, Maranda, Bruno, Clarke, Joe T.R.

“…Mucopolysaccharidoses (MPSs) are a group of disorders resulting from primary defects in lysosomal enzymes involved in the degradation of glycosaminoglycans…”
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Agalsidase Alfa and Kidney Dysfunction in Fabry Disease by WEST, Michael, NICHOLLS, Kathy, SCHIFFMANN, Raphael, MEHTA, Atul, CLARKE, Joe T. R, STEINER, Robert, BECK, Michael, BARSHOP, Bruce A, RHEAD, William, MENSAH, Robert, RIES, Markus

“…In male patients with Fabry disease, an X-linked disorder of glycosphingolipid metabolism caused by deficient activity of the lysosomal enzyme…”
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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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Efficient analysis of urinary glycosaminoglycans by LC-MS/MS in mucopolysaccharidoses type I, II and VI by Auray-Blais, Christiane, Bhérer, Patrick, Gagnon, René, Young, Sarah P., Zhang, Haoyue H., An, Yan, Clarke, Joe T.R., Millington, David S.

“…Mucopolysaccharidoses (MPSs) are complex storage disorders caused by specific lysosomal enzyme deficiencies, resulting in the accumulation of…”
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An improved method for glycosaminoglycan analysis by LC–MS/MS of urine samples collected on filter paper by Auray-Blais, Christiane, Lavoie, Pamela, Zhang, Haoyue, Gagnon, René, Clarke, Joe T.R., Maranda, Bruno, Young, Sarah P., An, Yan, Millington, David S.

“…Mucopolysaccharidoses are complex lysosomal storage disorders caused by any of eleven different enzyme deficiencies resulting in the accumulation of…”
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A refined empirical line approach for reflectance factor retrieval from Landsat-5 TM and Landsat-7 ETM by Moran, M.S, Bryant, R, Thome, K, Ni, W, Nouvellon, Y, Gonzalez-Dugo, M.P, Qi, J, Clarke, T.R

“…The recent launch of Landsat-7 ETM+ extends the uninterrupted stream of TM and ETM+ images to a potential span of 32 years. This exceptional image set will…”
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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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Treatment of Lysosomal Storage Disorders : Progress with Enzyme Replacement Therapy by ROHRBACH, Marianne, CLARKE, Joe T. R

“…Enzyme replacement therapy (ERT) as treatment for lysosomal storage diseases (LSDs) was suggested as long ago as 1966 by De Duve and Wattiaux. However, it took…”
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Using ESAP software for predicting the spatial distributions of NDVI and transpiration of cotton by Hunsaker, D.J., El-Shikha, D.M., Clarke, T.R., French, A.N., Thorp, K.R.

“…Observations of the normalized difference vegetation index (NDVI) from aerial imagery can be used to infer the spatial variability of basal crop coefficients…”
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Biomarkers in fabry disease by Auray-Blais, Christiane, LLM, PhD, Clarke, Joe T.R., MD, PhD, Young, Sarah P., PhD, Millington, David S., PhD

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Genomic Rearrangements Resulting in PLP1 Deletion Occur by Nonhomologous End Joining and Cause Different Dysmyelinating Phenotypes in Males and Females by Inoue, Ken, Osaka, Hitoshi, Thurston, Virginia C., Clarke, Joe T.R., Yoneyama, Akira, Rosenbarker, Lisa, Bird, Thomas D., Hodes, M.E., Shaffer, Lisa G., Lupski, James R.

“…In the majority of patients with Pelizaeus-Merzbacher disease, duplication of the proteolipid protein gene PLP1 is responsible, whereas deletion of PLP1 is…”
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Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype by Braverman, Nancy, Chen, Li, Lin, Paul, Obie, Cassandra, Steel, Gary, Douglas, Pamela, Chakraborty, Pranesh K., Clarke, Joe T.R., Boneh, Avihu, Moser, Ann, Moser, Hugo, Valle, David

“…PEX7 encodes the cytosolic receptor for the set of peroxisomal matrix enzymes targeted to the organelle by the peroxisome targeting signal 2 (PTS2). Mutations…”
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Enzyme-Replacement Therapy With Agalsidase Alfa in Children With Fabry Disease by Ries, Markus, Clarke, Joe T.R, Whybra, Catharina, Timmons, Margaret, Robinson, Chevalia, Schlaggar, Bradley L, Pastores, Gregory, Lien, Y. Howard, Kampmann, Christoph, Brady, Roscoe O, Beck, Michael, Schiffmann, Raphael

“…Fabry disease is an X-linked multisystem disorder. Enzyme-replacement therapy in adults has limited efficacy in treating major sequelae of advanced Fabry…”
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Use of urinary globotriaosylceramide for fabry disease screening in Canada by Auray-Blais, Christiane, LLM, PhD, Cyr, Denis, MSc, Drouin, Régen, MD, PhD, Clarke, Joe T.R., MD, PhD, Millington, David S., PhD

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Toward a Functional Definition of a “Rare Disease” for Regulatory Authorities and Funding Agencies by Clarke, Joe T.R., MD, PhD, Coyle, Doug, PhD, Evans, Gerald, MD, Martin, Janet, PharmD, Winquist, Eric, MD, MSc

“…Abstract Background The designation of a disease as “rare” is associated with some substantial benefits for companies involved in new drug development,…”
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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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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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