ExLibris header image
SFX Logo
Title: Oral Migalastat HCl Leads to Greater Systemic Exposure and Tissue Levels of Active α-Galactosidase A in Fabry Patients when Co-Administered with Infused Agalsidase
Source:

Plos One [1932-6203] yr:2015


Collapse list of basic services Basic
Full text
Full text available via PubMed Central
GO
Document delivery
Request document via Library/Bibliothek GO
Users interested in this article also expressed an interest in the following:
1. Giugliani, R. "A Phase 2 study of migalastat hydrochloride in females with Fabry disease: Selection of population, safety and pharmacodynamic effects." Molecular genetics and metabolism 109.1 (2013): 86-92. Link to SFX for this item
2. Chima, C. "Multimorbidity is associated with increased rates of depression in patients hospitalized with diabetes mellitus in the United States." Journal of diabetes and its complications 31.11: 1571-1579. Link to SFX for this item
3. Lukas, J. "Functional characterisation of alpha-galactosidase a mutations as a basis for a new classification system in fabry disease." PLOS Genetics 9.8 (2013): 1003632-. Link to Full Text for this item Link to SFX for this item
4. Poorthuis, L. "A systematic review on screening for Fabry disease: prevalence of individuals with genetic variants of unknown significance." Journal of medical genetics 51.1 (2013): 1-9. Link to SFX for this item
5. Keeling, L. "Female Anderson-Fabry disease mimicking hypertrophic cardiomyopathy." Journal of Clinical Pathology 65.4 (2012): 377-378. Link to SFX for this item
6. Wustman, Brandon A. "STABILIZING MUTANT PROTEINS WITH SMALL MOLECULES: AN EXAMPLE FROM FABRY DISEASE." Pediatric pulmonology 2012. 114-116. Link to Full Text for this item Link to SFX for this item
7. Narita, N. "Structural Determination of Lysosphingomyelin-509 and Discovery of Novel Class Lipids from Patients with Niemann–Pick Disease Type C." International journal of molecular sciences 20.20 (2019): 5018-. Link to Full Text for this item Link to SFX for this item
8. Chiu, C. "Psychological prognosis after newly diagnosed chronic conditions: socio-demographic and clinical correlates." International psychogeriatrics. 29.2: 281-292. Link to SFX for this item
9. Mcbrien, Kerry A. "Barriers to care in patients with diabetes and poor glycemic control-A cross-sectional survey." PloS one. 12.5: 176135-. Link to SFX for this item
10. "X-Linked Genetic Diseases and Conditions." Pain (2016): 1844-. Link to SFX for this item
11. Brennan, P. "Case-finding in Fabry disease: experience from the North of England." Journal of inherited metabolic disease 37.1 (2013): 103-7. Link to Full Text for this item Link to SFX for this item
12. Feldt Rasmussen, U. "Diagnostic dilemma: A young woman with Fabry disease symptoms, no family history, and a "sequencing cryptic" α-galactosidase a large deletion." Molecular genetics and metabolism 104.3 (2011): 314-318. Link to SFX for this item
13. Choi, Joon S. "A novel small insertion mutation, C.1030_1031ins (T) in α-galactosidase A leads to renal variant fabry disease." Renal failure (2012): 390-393. Link to SFX for this item
14. De Brabander, I. "Phenotypical characterization of α-galactosidase A gene mutations identified in a large Fabry disease screening program in stroke in the young." Clinical neurology and neurosurgery 115.7 (2012): 1088-1093. Link to SFX for this item
15. Elliott, P. "Prevalence of Anderson-Fabry disease in patients with hypertrophic cardiomyopathy: the European Anderson-Fabry Disease Survey." Heart 97.23 (2011): 1957-1960. Link to SFX for this item
16. Hwu, Wuh-Liang L. "Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later‐onset GLA mutation c. 936+ 919G> A (IVS4+ 919G> A)." Human mutation 30.10 (2009): 1397-1405. Link to Full Text for this item Link to SFX for this item
17. Miebach, E. "The Mainz Severity Score Index: a new instrument for quantifying the Anderson-Fabry disease phenotype, and the response of patients to enzyme replacement therapy." Clinical genetics 65.4 (2004): 299-307. Link to Full Text for this item Link to SFX for this item
18. Hollak, Frits E. "Screening for Fabry disease in high risk populations: a systematic review." Journal of Medical Genetics 47.4 (2009): 217-222. Link to SFX for this item
19. Khan, O. A., Dechent, P ., Hanefeld, F .A., Brockm, F A A. "Quantitative proton MRS of Pelizaeus-Merzbacher disease: Evidence of dys- and hypomyelination." Neurology 65.5: 701-706. Link to SFX for this item
20. Ingle, S B B. "The natural history of perianal Crohn's disease." Digestive and liver disease 39.10 (2007): 963-9. Link to SFX for this item
View More...
View Less...
Select All Clear All

Expand list of advanced services Advanced
A service provided by the Library of the Wissenschaftspark Albert Einstein, Potsdam, Germany.
© 2005 SFX by Ex Libris Inc.