E-LIB Suche - Ergebnisse für: Shankar, SP

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Prader-Willi and Angelman Syndromes: Mechanisms and Managem..:

Ma VK ; Mao R ; Toth JN...
https://www.dovepress.com/prader-willi-and-angelman-syndromes-mechanisms-and-management-peer-reviewed-fulltext-article-TACG. , 2023

Link: https://doaj.org/article..

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The seventh international RASopathies symposium: Pathways t..:

Kontaridis, MI ; Roberts, AE ; Schill, L...
https://openaccess.sgul.ac.uk/id/eprint/114220/1/American%20J%20of%20Med%20Genetics%20Pt%20A%20-%202022%20-%20Kontaridis%20-%20The%20seventh%20international%20RASopathies%20symposium%20Pathways%20to%20a%20cure.pdf. , 2022

Link: https://openaccess.sgul...

3

Migalastat improves diarrhea in patients with Fabry disease..:

Schiffmann, R ; Bichet, DG ; Jovanovic, A...
https://discovery.ucl.ac.uk/id/eprint/10049253/1/Hughes_Migalastat%20improves%20diarrhea%20in%20patients%20with%20Fabry%20disease.%20Clinical-biomarker%20correlations%20from%20the%20phase%203%20FACETS%20trial_VoR.pdf. , 2018

Link: https://discovery.ucl.ac..

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Migalastat improves diarrhea in patients with Fabry disease..:

Schiffmann, R ; Bichet, DG ; Jovanovic, A...
issn:1750-1172. , 2018

Link: http://hdl.handle.net/11..

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Phenotypic characteristics of the p.Asn215Ser (p.N215S) GLA..:

Germain, DP ; Brand, E ; Burlina, A...
issn:2324-9269. , 2018

Link: http://hdl.handle.net/11..

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Oral pharmacological chaperone migalastat compared with enz..:

Hughes, DA ; Nicholls, K ; Shankar, SP...
issn:0022-2593. , 2017

Link: http://hdl.handle.net/11..

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Oral pharmacological chaperone migalastat compared with enz..:

Hughes, DA ; Nicholls, K ; Shankar, SP...
https://discovery.ucl.ac.uk/id/eprint/1529639/1/Hughes_288.full.pdf. , 2017

Link: https://discovery.ucl.ac..

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An open-label clinical trial of agalsidase alfa enzyme repl..:

Goker-Alpan O ; Longo N ; McDonald M...
https://www.dovepress.com/an-open-label-clinical-trial-of-agalsidase-alfa-enzyme-replacement-the-peer-reviewed-article-DDDT. , 2016

Link: https://doaj.org/article..

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