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The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II).
Parenti G, Fecarotta S, Alagia M, Attaianese F, Verde A, Tarallo A, Gragnaniello V, Ziagaki A, Guimaraes MJ, Aguiar P, Hahn A, Azevedo O, Donati MA, Kiec-Wilk B, Scarpa M, van der Beek NAME, Del Toro Riera M, Germain DP, Huidekoper H, van den Hout JMP, van der Ploeg AT; and the MetabERN Subnetwork for Lysosomal Disorders. Parenti G, et al. Orphanet J Rare Dis. 2024 Nov 1;19(1):408. doi: 10.1186/s13023-024-03373-w. Orphanet J Rare Dis. 2024. PMID: 39482698 Free PMC article. Review.
Long-term exposure to Myozyme results in a decrease of anti-drug antibodies in late-onset Pompe disease patients.
Masat E, Laforêt P, De Antonio M, Corre G, Perniconi B, Taouagh N, Mariampillai K, Amelin D, Mauhin W, Hogrel JY, Caillaud C, Ronzitti G, Puzzo F, Kuranda K, Colella P, Mallone R, Benveniste O, Mingozzi F; French Pompe Registry Study Group. Masat E, et al. Sci Rep. 2016 Nov 4;6:36182. doi: 10.1038/srep36182. Sci Rep. 2016. PMID: 27812025 Free PMC article.
Very long-term outcomes in 23 patients with cblA type methylmalonic acidemia.
Marelli C, Fouilhoux A, Benoist JF, De Lonlay P, Guffon-Fouilhoux N, Brassier A, Cano A, Chabrol B, Pennisi A, Schiff M, Acquaviva C, Murphy E, Servais A, Lachmann R. Marelli C, et al. Among authors: guffon fouilhoux n. J Inherit Metab Dis. 2022 Sep;45(5):937-951. doi: 10.1002/jimd.12525. Epub 2022 Jun 23. J Inherit Metab Dis. 2022. PMID: 35618652 Free PMC article.
The French Pompe registry. Baseline characteristics of a cohort of 126 patients with adult Pompe disease.
Laforêt P, Laloui K, Granger B, Hamroun D, Taouagh N, Hogrel JY, Orlikowski D, Bouhour F, Lacour A, Salort-Campana E, Penisson-Besnier I, Sacconi S, Zagnoli F, Chapon F, Eymard B, Desnuelle C, Pouget J; French Pompe Registry Study Group. Laforêt P, et al. Rev Neurol (Paris). 2013 Aug-Sep;169(8-9):595-602. doi: 10.1016/j.neurol.2013.07.002. Epub 2013 Sep 3. Rev Neurol (Paris). 2013. PMID: 24008051
Effect of enzyme replacement therapy with alglucosidase alfa (Myozyme®) in 12 patients with advanced late-onset Pompe disease.
Papadopoulos C, Orlikowski D, Prigent H, Lacour A, Tard C, Furby A, Praline J, Solé G, Hogrel JY, De Antonio M, Semplicini C, Deibener-Kaminsky J, Kaminsky P, Eymard B, Taouagh N, Perniconi B, Hamroun D, Laforêt P; French Pompe Study Group. Papadopoulos C, et al. Mol Genet Metab. 2017 Sep;122(1-2):80-85. doi: 10.1016/j.ymgme.2017.06.007. Epub 2017 Jun 20. Mol Genet Metab. 2017. PMID: 28648663
Rapid quantification of miglustat in human plasma and cerebrospinal fluid by liquid chromatography coupled with tandem mass spectrometry.
Guitton J, Coste S, Guffon-Fouilhoux N, Cohen S, Manchon M, Guillaumont M. Guitton J, et al. Among authors: guffon fouilhoux n. J Chromatogr B Analyt Technol Biomed Life Sci. 2009 Jan 15;877(3):149-54. doi: 10.1016/j.jchromb.2008.11.040. Epub 2008 Dec 3. J Chromatogr B Analyt Technol Biomed Life Sci. 2009. PMID: 19095507