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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

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

Marina Moraitou, Georgios Sotiroudis, [ ... ], Helen Michelakakis

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

Olivia Esteban, Miguel Angel Torralba, [ ... ], Javier Ascaso

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

Eugen Mengel, Jens Gaedeke, [ ... ], Christoph Ohlmeier

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, [ ... ], Yoshikatsu Eto

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

Sven F. Garbade, Matthias Zielonka, [ ... ], Markus Ries

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

Andrea N. Crivaro, Juan M. Mucci, [ ... ], Paula A. Rozenfeld

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

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, [ ... ], David Cheillan

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

Wouter W. Kallemeijn, Saskia Scheij, [ ... ], Johannes M. F. G. Aerts

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, [ ... ], Clifford Lingwood

Fluorogenic Substrates for Visualizing Acidic Organelle Enzyme Activities

Fiona Karen Harlan, Jason Scott Lusk, [ ... ], John Joseph Naleway

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

Kazuyuki Kitatani, Masayuki Wada, [ ... ], Yusuf A. Hannun

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