Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Patrick B. Deegan"'
Autor:
Karolina M. Stepien, Alexander Broomfield, Duncan Cole, Patrick B. Deegan, Stuart Forshaw-Hulme, Derralynn Hughes, Ana Jovanovic, Liz Morris, Alison Muir, Uma Ramaswami
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-12 (2023)
Abstract Background Fabry disease is a rare, X-linked inherited lysosomal storage disorder, that manifests as a heterogeneous disease with renal, cardiac and nervous system involvement. The most common pain experienced by people with Fabry disease ar
Externí odkaz:
https://doaj.org/article/9bce522b34f64580a10095f385fbaf59
Autor:
Tatiana Raskovalova, Patrick B. Deegan, Pramod K. Mistry, Elena Pavlova, Ruby Yang, Ari Zimran, Juliette Berger, Céline Bourgne, Bruno Pereira, José Labarère, Marc G. Berger
Publikováno v:
Haematologica, Vol 106, Iss 2 (2020)
Chitotriosidase activity and CCL18 concentration are interchangeably used for monitoring Gaucher disease (GD) activity, together with clinical assessment. However, comparative studies of these two biomarkers are scarce and of limited sample size. The
Externí odkaz:
https://doaj.org/article/5ceccf72fd7b4c5e9d7f59aa140f6a96
Autor:
Tatiana Raskovalova, Patrick B. Deegan, Ruby Yang, Elena Pavlova, Jérome Stirnemann, José Labarère, Ari Zimran, Pramod K. Mistry, Marc Berger
Publikováno v:
Systematic Reviews, Vol 6, Iss 1, Pp 1-10 (2017)
Abstract Background Gaucher disease (GD) is an autosomal recessive lysosomal storage disorder caused by deficiency in acid beta-glucosidase. GD exhibits a wide clinical spectrum of disease severity with an unpredictable natural course. Plasma chitotr
Externí odkaz:
https://doaj.org/article/d6d7f288287f40648bb639f0ca3afefa
Autor:
Laura van Dussen, Timothy M. Cox, Erik J. Hendriks, Elizabeth Morris, Erik M. Akkerman, Mario Maas, Johanna E. M. Groener, Johannes M.F.G. Aerts, Patrick B. Deegan, Carla E. M. Hollak
Publikováno v:
Haematologica, Vol 97, Iss 12 (2012)
This paper describes the effects of a switch to velaglucerase alfa in a group of adult patients with type 1 Gaucher disease, all of whom had previously had their dose reduced as a consequence of the worldwide imiglucerase shortage. Thirty-two patient
Externí odkaz:
https://doaj.org/article/2427c05cba154ac8b700ded745c8c566
Autor:
Patrick B. Deegan, Ozlem Goker-Alpan, Tarekegn Geberhiwot, Robert J. Hopkin, Elena Lukina, Anna Tylki-Szymanska, Atef Zaher, Charlotte Sensinger, Sebastiaan J.M. Gaemers, Vijay Modur, Beth L. Thurberg, Jyoti Sharma, Behzad Najafian, Michael Mauer, Pronabesh DasMahapatra, William R. Wilcox, Dominique P. Germain
Publikováno v:
Molecular Genetics and Metabolism. 138:106963
Venglustat inhibits the enzymatic conversion of ceramide to glucosylceramide, reducing available substrate for the synthesis of more complex glycosphingolipids. It offers a potential new approach to the treatment of patients with Fabry disease (α-Ga
Autor:
John Bernat, Myrl D. Holida, Nicola Longo, Ozlem Goker-Alpan, Eric Wallace, Patrick B. Deegan, Camilla Tøndel, Francois J. Eyskens, Ulla Feldt-Rasmussen, Derralynn Hughes, Antonio Pisani, Rossana Rocco, Einat Brill Almon, Sari Alon, Raul Chertkoff, David G. Warnock, Stephen Waldek, William R. Wilcox
Publikováno v:
Molecular Genetics and Metabolism. 138:107027
Autor:
Robert Hopkin, Joseph Kupferman, Patrick B. Deegan, Pascal Minini, Harmonie Goyeau, Manish Maski, Nicole Lyn, Pronabesh DasMahapatra, Dominique P. Germain
Publikováno v:
Molecular Genetics and Metabolism. 135:S56-S57
Autor:
Patrick B. Deegan, Timothy M. Cox
The lysosome is a ubiquitous, single membrane-bond intracellular organelle which continuously recycles biological macromolecules: it not only breaks down cell components but has a dynamic role in nutrient and energy sensing that, through regulatory s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8d4b498131e624ff4e6b44f252403bc7
https://doi.org/10.1093/med/9780198746690.003.0235
https://doi.org/10.1093/med/9780198746690.003.0235
Publikováno v:
Kidney international. 60(6)
Prognostic value of troponin T in hemodialysis patients is independent of comorbidity.BackgroundPatients on long-term hemodialysis have a high mortality. Various clinical and biochemical markers are of prognostic value. Cardiac troponin T (cTnT) is a
Autor:
Olaf Bodamer, Patrick B. Deegan
Publikováno v:
Clinical Therapeutics. 29:S73