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Journal of Inherited Metabolic Disease|December 17, 2010
Danon disease: intrafamilial phenotypic variability related to a novel LAMP-2 mutationSarah-Louise Cottinet, Anne-Marie Bergemer-Fouquet, Annick Toutain, et al.JIMD Reports|July 13, 2013
Accumulation of ordered ceramide-cholesterol domains in farber disease fibroblastsNatalia Santos Ferreira, Michal Goldschmidt-Arzi, Helena Sabanay, et al.Journal of Inherited Metabolic Disease|February 7, 2013
Farber lipogranulomatosis with predominant joint involvement mimicking juvenile idiopathic arthritisMikhail M Kostik, Irina A Chikova, Vladislav V Avramenko, et al.Journal of Inherited Metabolic Disease|June 29, 2023
Natural history of GM1 gangliosidosis-Retrospective cohort study of 61 French patients from 1998 to 2019Domitille Laur, Samia Pichard, Soumeya Bekri, et al.Chemistry and Physics of Lipids|September 1, 2006
Design, synthesis and activity as acid ceramidase inhibitors of 2-oxooctanoyl and N-oleoylethanolamine analoguesSantiago Grijalvo, Carmen Bedia, Gemma Triola, et al.Handbook of Experimental Pharmacology|April 13, 2013
Genetic disorders of simple sphingolipid metabolismVirginie Albinet, Marie-Lise Bats, Carmen Bedia, et al.Graefe'S Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie|October 30, 2008
Ceramide production associated with retinal apoptosis after retinal detachmentMarie-Laure Ranty, Stéphane Carpentier, Maxime Cournot, et al.Organic & Biomolecular Chemistry|September 25, 2020
Concise asymmetric synthesis of new enantiomeric C-alkyl pyrrolidines acting as pharmacological chaperones against Gaucher diseaseTessa Castellan, Virginie Garcia, Frédéric Rodriguez, et al.Chemistry (Weinheim an Der Bergstrasse, Germany)|June 14, 2023
Phosphorus Dendrimers for Metal-Free Ligation: Design of Multivalent Pharmacological Chaperones against Gaucher DiseaseMy Lan Tran, Marc Borie-Guichot, Virginie Garcia, et al.Chembiochem : a European Journal of Chemical Biology|September 27, 2014
Identification of novel CERT ligands as potential ceramide trafficking inhibitorsCécile Santos, Frédéric Rogriguez, Virginie Garcia, et al.Pageof 18