Zobrazeno 1 - 10
of 156
pro vyhledávání: '"Joe T.R. Clarke"'
Publikováno v:
Lysosomal Storage Disorders. :104-113
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7efa7f54387b7212c0c126a128a63ae6
https://doi.org/10.1002/9781119697312.ch11
https://doi.org/10.1002/9781119697312.ch11
Autor:
Ayub Akbari, Adeera Levin, Fabrice Mac-Way, Pamela Lavoie, Joe T.R. Clarke, Michel Boutin, Anne-Marie Côté, Christiane Auray-Blais, Mona Abaoui
Publikováno v:
Clinica Chimica Acta. 501:234-240
Background Fabry disease is an X-linked lysosomal storage disorder with a highly heterogeneous clinical presentation. This complex disease is caused by a deficient activity of the enzyme α-galactosidase A, which is involved in the catabolism of glyc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c5c77b5aebe870e65113d77b2d7d8b8
https://doi.org/10.1016/j.cca.2019.10.045
https://doi.org/10.1016/j.cca.2019.10.045
Autor:
Eva Mamak, Joe T.R. Clarke, Hewson Stacy, Susan Blaser, Saadet Mercimek-Mahmutoglu, Jaina Patel, Christel Tran, Julian Raiman, Hanna Faghfoury
Publikováno v:
European Journal of Paediatric Neurology. 21:600-609
Background X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder associated with leukodystrophy, myeloneuropathy and adrenocortical insufficiency. We performed a retrospective cohort study to evaluate long-term outcome of patients with X-AL
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d4c20c67d633b19779303ea3ffe3912
https://doi.org/10.1016/j.ejpn.2017.02.006
https://doi.org/10.1016/j.ejpn.2017.02.006
Autor:
Bruno Maranda, Christiane Auray-Blais, Alina Levtova, Paula J. Waters, Nancy Braverman, Rachel Laframboise, Sébastien Lévesque, Catherine Brunel-Guitton, Joe T.R. Clarke, Grant A. Mitchell, Daniela Buhas
Publikováno v:
Journal of inherited metabolic disease. 42(1)
The clinical significance of combined malonic and methylmalonic aciduria due to ACSF3 deficiency (CMAMMA) is controversial. In most publications, affected patients were identified during the investigation of various complaints.Using a cross-sectional
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b0c0f273daabceb36eff61b2754680fa
https://pubmed.ncbi.nlm.nih.gov/30740739
https://pubmed.ncbi.nlm.nih.gov/30740739
Autor:
David Chitayat, Susan Blaser, Annette Feigenbaum, Grace Yoon, William Halliday, Joe T.R. Clarke, Almundher Al-Maawali, Helen M. Branson, Brenda Banwell
Publikováno v:
Neuroradiology. 58:1035-1042
Infantile neuroaxonal dystrophy (INAD), an autosomal recessive neurodegenerative disorder due to PLA2G6 mutation, is classified both as a PLA2G6-associated neurodegeneration (PLAN) disorder and as one of the neurodegeneration with brain iron accumula
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::219f9aa18d247675bde9de07963830ae
https://doi.org/10.1007/s00234-016-1726-6
https://doi.org/10.1007/s00234-016-1726-6
Autor:
Charlotte Moore Hepburn, Robin Z. Hayeems, Adalsteinn D. Brown, Fiona A. Miller, Pranesh Chakraborty, Joe T.R. Clarke, Isaac Odame
Publikováno v:
Genetics in Medicine. 19:625-627
Managing sickle cell carrier results generated through newborn screening in Ontario: a precedent-setting policy story
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2501e1da025fe8297eca03f68b1ac04c
https://doi.org/10.1038/gim.2016.162
https://doi.org/10.1038/gim.2016.162
Autor:
Winnie Chan, Joe T.R. Clarke, Doug Coyle, Christine Seager, Eric Winquist, Gerald A Evans, Janet Martin
Publikováno v:
Journal of General Internal Medicine. 29:774-779
BACKGROUND: In many countries, decisions about the public funding of drugs are preferentially based on the results of randomized trials. For truly rare diseases, such trials are not typically available, and approaches by public payers are highly vari
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::81899e14311984270ad2e203a6c620e3
https://doi.org/10.1007/s11606-014-2885-y
https://doi.org/10.1007/s11606-014-2885-y
Autor:
Pamela Lavoie, John J. Mitchell, Shunji Tomatsu, Vassili Valayannopoulos, Maxime C. Beaudoin, Christiane Auray-Blais, Joe T.R. Clarke, Bruno Maranda, Julian Raiman
Publikováno v:
Analytica chimica acta. 936
Mucopolysaccharidoses (MPSs) are a group of disorders resulting from primary defects in lysosomal enzymes involved in the degradation of glycosaminoglycans (GAGs). Depending on the specific enzyme defect, the catabolism of one or more GAGs is blocked
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::55400ce6e15948cc3ead40221c49ceb4
https://pubmed.ncbi.nlm.nih.gov/27566349
https://pubmed.ncbi.nlm.nih.gov/27566349
Autor:
Michael Jamorski, Shemy Carasso, Harry Rakowski, Melanie Care, Christiane Gruner, Joe T.R. Clarke, Mani A. Vannan, Flavia Verocai, Robert M. Iwanochko
Publikováno v:
Echocardiography. 29:810-817
Objectives: Anderson–Fabry disease (AFD) is a lysosomal storage disease, which can involve the heart, mimicking hypertrophic cardiomyopathy (HCM). The underlying mechanism of disease in AFD is an infiltrative, diffuse process, whereas HCM is a prim
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3136c3835e89e9b61fdcbf15dbe2c34c
https://doi.org/10.1111/j.1540-8175.2012.01704.x
https://doi.org/10.1111/j.1540-8175.2012.01704.x
Autor:
Sarah P. Young, Yan An, Haoyue Zhang, Joe T.R. Clarke, David S. Millington, René Gagnon, Bruno Maranda, Christiane Auray-Blais, Pamela Lavoie
Publikováno v:
Clinica Chimica Acta. 413:771-778
Mucopolysaccharidoses are complex lysosomal storage disorders caused by any of eleven different enzyme deficiencies resulting in the accumulation of substrates, mainly glycosaminoglycans (GAGs), in various tissues and biological fluids.We developed a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d9c8972de39ba5ee78a5edac0e81cd40
https://doi.org/10.1016/j.cca.2012.01.012
https://doi.org/10.1016/j.cca.2012.01.012