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Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie|November 5, 1997
[Study of plasma acylcarnitines using tandem mass spectrometry. Application to the diagnosis of metabolism hereditary diseases]F Delolme, C Vianey-Saban, N Guffon, 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.Molecular Genetics and Metabolism|July 21, 2009
Natural history of Niemann-Pick disease type C in a multicentre observational retrospective cohort studyJ E Wraith, N Guffon, M Rohrbach, 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.Molecular Genetics and Metabolism|February 13, 2001
Molecular and structural analysis of two novel mutations in a patient with mut(-) methylmalonyl-CoA deficiencyJ F Benoist, C Acquaviva, I Callebaut, et al.Journal of Inherited Metabolic Disease|January 1, 1993
2-Ketoglutarate dehydrogenase deficiency, a rare cause of primary hyperlactataemia: report of a new caseN Guffon, C Lopez-Mediavilla, R Dumoulin, et al.European Journal of Human Genetics : EJHG|August 31, 2001
N219Y, a new frequent mutation among mut(degree) forms of methylmalonic acidemia in Caucasian patientsC Acquaviva, J F Benoist, I Callebaut, et al.Orphanet Journal of Rare Diseases|May 25, 2017
Clinical outcomes in a subpopulation of adults with Morquio A syndrome: results from a long-term extension study of elosulfase alfaD Hughes, R Giugliani, N Guffon, et al.The New England Journal of Medicine|July 7, 2001
Safety and efficacy of recombinant human alpha-galactosidase A replacement therapy in Fabry's diseaseC M Eng, N Guffon, W R Wilcox, et al.Journal of Inherited Metabolic Disease|January 25, 2008
NTBC treatment in tyrosinaemia type I: long-term outcome in French patientsA Masurel-Paulet, J Poggi-Bach, M-O Rolland, et al.Pageof 4