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Gaucher's disease

Management goals of type 1 Gaucher disease in South Africa: An expert Delphi consensus document on good clinical practice

Vernon Johan Louw, Ilanca Fraser, Pilar Giraldo

published 22 Aug 2023

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a-Synuclein and lipids in erythrocytes of Gaucher disease carriers and patients before and after enzyme replacement therapy

Marina Moraitou, Georgios Sotiroudis, Nikolaos Papagiannakis, Maria M. J. Ferraz, Aristotelis Xenakis, Johannes M. F. G. Aerts, Leonidas Stefanis, Helen Michelakakis

published 03 Feb 2023

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New correlations between ocular parameters and disease severity in Spanish patients with Gaucher’s disease Type I

Olivia Esteban, Miguel Angel Torralba, Susana Olivera, Mireya Martinez, Paula Montes, Sara Marco, Javier Ascaso

published 06 Dec 2021

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The patient journey of patients with Fabry disease, Gaucher disease and Mucopolysaccharidosis type II: A German-wide telephone survey

Eugen Mengel, Jens Gaedeke, Holger Gothe, Simon Krupka, Anja Lachmann, Jörg Reinke, Christoph Ohlmeier

published 31 Dec 2020

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A combination of 7-ketocholesterol, lysosphingomyelin and bile acid-408 to diagnose Niemann-Pick disease type C using LC-MS/MS

Chen Wu, Takeo Iwamoto, Mohammad Arif Hossain, Keiko Akiyama, Junko Igarashi, Takashi Miyajima, Yoshikatsu Eto

published 08 Sep 2020

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FDA orphan drug designations for lysosomal storage disorders – a cross-sectional analysis

Sven F. Garbade, Matthias Zielonka, Konstantin Mechler, Stefan Kölker, Georg F. Hoffmann, Christian Staufner, Eugen Mengel, Markus Ries

published 08 Apr 2020

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Efficacy of pentosan polysulfate in in vitro models of lysosomal storage disorders: Fabry and Gaucher Disease

Andrea N. Crivaro, Juan M. Mucci, Constanza M. Bondar, Maximiliano E. Ormazabal, Romina Ceci, Calogera Simonaro, Paula A. Rozenfeld

published 31 May 2019

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Impaired autophagic and mitochondrial functions are partially restored by ERT in Gaucher and Fabry diseases

Margarita M. Ivanova, Erk Changsila, Chidima Iaonou, Ozlem Goker-Alpan

published 11 Jan 2019

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LC-MS/MS multiplex analysis of lysosphingolipids in plasma and amniotic fluid: A novel tool for the screening of sphingolipidoses and Niemann-Pick type C disease

Magali Pettazzoni, Roseline Froissart, Cécile Pagan, Marie T. Vanier, Séverine Ruet, Philippe Latour, Nathalie Guffon, Alain Fouilhoux, Dominique P. Germain, Thierry Levade, Christine Vianey-Saban, Monique Piraud, David Cheillan

published 27 Jul 2017

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Investigations on therapeutic glucocerebrosidases through paired detection with fluorescent activity-based probes

Wouter W. Kallemeijn, Saskia Scheij, Sascha Hoogendoorn, Martin D. Witte, Daniela Herrera Moro Chao, Cindy P. A. A. van Roomen, Roelof Ottenhoff, Herman S. Overkleeft, Rolf G. Boot, Johannes M. F. G. Aerts

published 16 Feb 2017

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Endoplasmic Reticulum-Targeted Subunit Toxins Provide a New Approach to Rescue Misfolded Mutant Proteins and Revert Cell Models of Genetic Diseases

Humaira Adnan, Zhenbo Zhang, Hyun-Joo Park, Chetankumar Tailor, Clare Che, Mustafa Kamani, George Spitalny, Beth Binnington, Clifford Lingwood

published 09 Dec 2016

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Fluorogenic Substrates for Visualizing Acidic Organelle Enzyme Activities

Fiona Karen Harlan, Jason Scott Lusk, Breanna Michelle Mohr, Anthony Peter Guzikowski, Robert Hardy Batchelor, Ying Jiang, John Joseph Naleway

published 26 May 2016

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Activation of p38 Mitogen-Activated Protein Kinase in Gaucher’s Disease

Kazuyuki Kitatani, Masayuki Wada, David Perry, Toshinori Usui, Ying Sun, Lina M. Obeid, Nobuo Yaegashi, Gregory A. Grabowski, Yusuf A. Hannun

published 27 Aug 2015

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