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La Revue De Medecine Interne|January 8, 2011
[Priapism: a severe paediatric complication of Fabry disease]F Labarthe, C de Bodman, A Maruani, et al.
Virus Research|November 21, 2017
Increase in taxonomic assignment efficiency of viral reads in metagenomic studiesS François, D Filloux, M Frayssinet, et al.
Journal of Inherited Metabolic Disease|May 20, 2005
Early diagnosis of mucopolysaccharidosis III A with a nonsense mutation and two de novo missense mutations in SGSH geneS Bekri, G Armana, D De Ricaud, et al.
Clinical Genetics|July 11, 1998
Identification of iduronate sulfatase gene alterations in 70 unrelated Hunter patientsR Froissart, I Maire, G Millat, et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie|November 11, 2008
[Enzyme replacement therapy in a boy with infantile Pompe disease: cardiac follow-up]R Bonnefoy, F Labarthe, F Paoli, et al.
Scientific Reports|September 8, 2016
Discovery of parvovirus-related sequences in an unexpected broad range of animalsS François, D Filloux, P Roumagnac, et al.
American Journal of Medical Genetics. Part A|November 10, 2005
Fetal type IV glycogen storage disease: clinical, enzymatic, and genetic data of a pure muscular form with variable and early antenatal manifestations in the same familyA L'herminé-Coulomb, F Beuzen, R Bouvier, et al.
Orphanet Journal of Rare Diseases|February 1, 2021
Long term disease burden post-transplantation: three decades of observations in 25 Hurler patients successfully treated with hematopoietic stem cell transplantation (HSCT)N Guffon, M Pettazzoni, N Pangaud, et al.
Revue Neurologique|June 6, 2017
Peripheral nerve involvement in Fabry's disease: Which investigations? A case series and review of the literatureJ Franques, P Sahuc, B Dussol, et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie|December 29, 2007
[Hurler syndrome. Early diagnosis and successful enzyme replacement therapy: a new therapeutic approach. Case report]C Dupont, C El Hachem, S Harchaoui, et al.
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