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Emmanuelle Le Trionnaire

Showing results (1-10 of 4) with videos related to

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JIMD Reports|January 22, 2015
Refsum Disease Presenting with a Late-Onset LeukodystrophyFlavie Bompaire, Véronique Marcaud, Emmanuelle Le Trionnaire, et al.
Molecular Genetics and Metabolism|May 28, 2013
Molecular basis of acid ceramidase deficiency in a neonatal form of Farber disease: identification of the first large deletion in ASAH1 geneMariana Q Alves, Emmanuelle Le Trionnaire, Isaura Ribeiro, et al.
Journal of Inherited Metabolic Disease|February 7, 2013
Farber lipogranulomatosis with predominant joint involvement mimicking juvenile idiopathic arthritisMikhail M Kostik, Irina A Chikova, Vladislav V Avramenko, et al.
Orphanet Journal of Rare Diseases|April 18, 2015
Natural disease history and characterisation of SUMF1 molecular defects in ten unrelated patients with multiple sulfatase deficiencyFrédérique Sabourdy, Lionel Mourey, Emmanuelle Le Trionnaire, et al.
Pageof 1

Showing results (1-10 of 4) with videos related to

Sort By:
Pageof 1
JIMD Reports|January 22, 2015
Refsum Disease Presenting with a Late-Onset LeukodystrophyFlavie Bompaire, Véronique Marcaud, Emmanuelle Le Trionnaire, et al.
Molecular Genetics and Metabolism|May 28, 2013
Molecular basis of acid ceramidase deficiency in a neonatal form of Farber disease: identification of the first large deletion in ASAH1 geneMariana Q Alves, Emmanuelle Le Trionnaire, Isaura Ribeiro, et al.
Journal of Inherited Metabolic Disease|February 7, 2013
Farber lipogranulomatosis with predominant joint involvement mimicking juvenile idiopathic arthritisMikhail M Kostik, Irina A Chikova, Vladislav V Avramenko, et al.
Orphanet Journal of Rare Diseases|April 18, 2015
Natural disease history and characterisation of SUMF1 molecular defects in ten unrelated patients with multiple sulfatase deficiencyFrédérique Sabourdy, Lionel Mourey, Emmanuelle Le Trionnaire, et al.
Pageof 1