Urinary Globotriaosylsphingosine-Related Biomarkers for Fabry Disease Targeted by Metabolomics von Auray-Blais, Christiane, Boutin, Michel, Gagnon, René, Dupont, Félix O, Lavoie, Pamela, Clarke, Joe T. R

Volltext

Application of a Policy Framework for the Public Funding of Drugs for Rare Diseases von Winquist, Eric, Coyle, Doug, Clarke, Joe T. R., Evans, Gerald A., Seager, Christine, Chan, Winnie, Martin, Janet

Volltext

Pyrimethamine as a Potential Pharmacological Chaperone for Late-onset Forms of GM2 Gangliosidosis von Maegawa, Gustavo H.B., Tropak, Michael, Buttner, Justin, Stockley, Tracy, Kok, Fernando, Clarke, Joe T.R., Mahuran, Don J.

Volltext

Childhood onset of Scheie syndrome, the attenuated form of mucopolysaccharidosis I von Thomas, Janet A, Beck, Michael, Clarke, Joe T. R, Cox, Gerald F

Volltext

Identification and Characterization of Ambroxol as an Enzyme Enhancement Agent for Gaucher Disease von 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.

Volltext

Agalsidase Alfa and Kidney Dysfunction in Fabry Disease von 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

Volltext

Treatment of Lysosomal Storage Disorders : Progress with Enzyme Replacement Therapy von ROHRBACH, Marianne, CLARKE, Joe T. R

Volltext

Combined malonic and methylmalonic aciduria due to ACSF3 mutations: Benign clinical course in an unselected cohort von 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.

Volltext

High-risk screening for Fabry disease in a Canadian cohort of chronic kidney disease patients von Auray-Blais, Christiane, Lavoie, Pamela, Abaoui, Mona, Côté, Anne-Marie, Boutin, Michel, Akbari, Ayub, Levin, Adeera, Mac-Way, Fabrice, TR Clarke, Joe

Volltext

Enzyme-Replacement Therapy With Agalsidase Alfa in Children With Fabry Disease von 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

Volltext

Novel Microdeletions Affecting the GNAS Locus in Pseudohypoparathyroidism: Characterization of the Underlying Mechanisms von Garin, Intza, Elli, Francesca M, Linglart, Agnes, Silve, Caroline, de Sanctis, Luisa, Bordogna, Paolo, Pereda, Arrate, Clarke, Joe T. R, Kannengiesser, Caroline, Coutant, Regis, Tenebaum-Rakover, Yardena, Admoni, Osnat, de Nanclares, Guiomar Perez, Mantovani, Giovanna

Volltext

Erythropoietic Protoporphyria: Spectrum of Three Cases von Bertrand, Janie, Clarke, Joe T.R., Hanna, Dominique

Volltext

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) von Clarke, Joe T.R., Mahuran, Don J., Sathe, Swati, Kolodny, Edwin H., Rigat, Brigitte A., Raiman, Julian A., Tropak, Michael B.

Volltext

Long-term outcome of patients with X-linked adrenoleukodystrophy: a retrospective cohort study von Tran, Christel, MD, Patel, Jaina, Stacy, Hewson, Mamak, Eva G, Faghfoury, Hanna, Raiman, Julian, Clarke, Joe TR, Blaser, Susan, Mercimek-Mahmutoglu, Saadet

Volltext

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

Volltext

Four-Year Prospective Clinical Trial of Agalsidase Alfa in Children with Fabry Disease von Schiffmann, Raphael, MD, Martin, Rick A., MD, Reimschisel, Tyler, MD, Johnson, Karen, MD, MPH, Castaneda, Victoria, MD, Lien, Y. Howard, MD, PhD, Pastores, Gregory M., MD, Kampmann, Christoph, MD, Ries, Markus, MD, PhD, MHSc, Clarke, Joe T.R., MD, PhD

Volltext

Disease Rarity, Carrier Status, and Gender: A Triple Disadvantage for Women with Fabry Disease von Gibas, Andrea L., Klatt, Regan, Johnson, Jack, Clarke, Joe T. R., Katz, Joel

Volltext

An Evaluation Framework for Funding Drugs for Rare Diseases von 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

Volltext

X-linked adrenoleukodystrophy: ABCD1 de novo mutations and mosaicism von 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

Volltext

Changes in plasma and urine globotriaosylceramide levels do not predict Fabry disease progression over 1 year of agalsidase alfa von 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

Volltext