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Journal of Inherited Metabolic Disease|July 2, 2013
Surgical management of thoracolumbar kyphosis in mucopolysaccharidosis type 1 in a reference centerKariman Abelin Genevois, Christophe Garin, Federico Solla, et al.
Molecular Genetics and Metabolism|December 19, 2003
Fabry disease: D313Y is an alpha-galactosidase A sequence variant that causes pseudodeficient activity in plasmaRoseline Froissart, Nathalie Guffon, Marie T Vanier, et al.
Orphanet Journal of Rare Diseases|April 19, 2015
Diagnosis, quality of life, and treatment of patients with Hunter syndrome in the French healthcare system: a retrospective observational studyNathalie Guffon, Bénédicte Heron, Brigitte Chabrol, et al.
Cardiology in the Young|October 18, 2023
Natural history of cardiac findings in mucopolysaccharidosis type I: report from an international registryElizabeth Braunlin, Luisa Bay, Nathalie Guffon, et al.
Orphanet Journal of Rare Diseases|February 1, 2008
Carglumic acid: an additional therapy in the treatment of organic acidurias with hyperammonemia?Virginie Levrat, Isabelle Forest, Alain Fouilhoux, et al.
Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences|December 20, 2008
Rapid quantification of miglustat in human plasma and cerebrospinal fluid by liquid chromatography coupled with tandem mass spectrometryJérôme Guitton, Sylvie Coste, Nathalie Guffon-Fouilhoux, et al.
The Journal of Pediatrics|August 30, 2005
Neonatal hyperammonemia: the N-carbamoyl-L-glutamic acid testNathalie Guffon, Manuel Schiff, David Cheillan, et al.
American Journal of Medical Genetics. Part A|October 23, 2019
Growth patterns for untreated individuals with MPS I: Report from the international MPS I registryDavid Viskochil, Lorne A Clarke, Luisa Bay, et al.
The Journal of Pediatrics|June 11, 2011
Evaluation of miglustat treatment in patients with type III mucopolysaccharidosis: a randomized, double-blind, placebo-controlled studyNathalie Guffon, Sylvie Bin-Dorel, Evelyne Decullier, et al.
Molecular Genetics and Metabolism|February 21, 2021
Clinical outcomes in a series of 18 patients with long chain fatty acids oxidation disorders treated with triheptanoin for a median duration of 22 monthsNathalie Guffon, Fanny Mochel, Manuel Schiff, et al.
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