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Acta Paediatrica (Oslo, Norway : 1992). Supplement|February 8, 2003
Mucopolysaccharidosis type II--genotype/phenotype aspectsR Froissart, I Moreira da Silva, N Guffon, et al.Journal of Inherited Metabolic Disease|April 7, 2004
CDG IIx with unusual phenotypeD Cheillan, S Cognat, C Dorche, et al.Journal of Inherited Metabolic Disease|January 26, 2006
First-trimester enzymatic and molecular prenatal diagnosis of mevalonic aciduriaM O Rolland, L Cuisset, J Le Bozec, et al.Acta Neuropathologica|January 1, 1996
Molecular histology of mitochondrial and nuclear transcripts in the muscle of patients harbouring a single mitochondrial DNA deletionH Carrier, B Burt-Pichat, F Flocard, et al.Revue Neurologique|June 20, 2002
[Vertebro-basilar ischemic strokes and aseptic meningitis, late complications of Fabry's disease]X Perrot, N Nighoghossian, L Derex, et al.Journal of Inherited Metabolic Disease|January 1, 1995
A new neonatal case of N-acetylglutamate synthase deficiency treated by carbamylglutamateN Guffon, C Vianey-Saban, J Bourgeois, et al.Pediatrie|January 1, 1993
[Multiple acyl-CoA dehydrogenase deficiency. Report of 2 siblings]N Guffon, C Vianey-Saban, J C Berthier, et al.Revue Des Maladies Respiratoires|September 25, 2010
[Unusual pulmonary presentation of lysinuric protein intolerance]E Berthoux, I Durieu, N Guffon, et al.Clinical and Experimental Rheumatology|June 10, 2006
Attenuated type I mucopolysaccharidosis in the differential diagnosis of juvenile idiopathic arthritis: a series of 13 patients with Scheie syndromeR Cimaz, S Vijay, C Haase, et al.Molecular Genetics and Metabolism|February 23, 2019
Recognition of alpha-mannosidosis in paediatric and adult patients: Presentation of a diagnostic algorithm from an international working groupN Guffon, A Tylki-Szymanska, L Borgwardt, et al.Pageof 4