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Pascale de Lonlay

Showing results (11-20 of 257) with videos related to

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Journal of Clinical Immunology|August 2, 2014
Inborn errors of metabolism underlying primary immunodeficienciesNima Parvaneh, Pierre Quartier, Parastoo Rostami, et al.
Vaccine|October 31, 2015
Vaccination coverage of patients with inborn errors of metabolism and the attitudes of their parents towards vaccinesMarta Cerutti, Pascale De Lonlay, Francesca Menni, et al.
Journal of Hepatology|July 12, 2011
Mutation in the mitochondrial translation elongation factor EFTs results in severe infantile liver failureVanessa Vedrenne, Louise Galmiche, Dominique Chretien, 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.
Journal of AAPOS : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus|February 5, 2020
Bilateral dendriform ulcer leading to an early diagnosis of tyrosinemia type 2Gilles C Martin, Pascale de Lonlay, Thibaut Chapron, et al.
Journal of Medicinal Chemistry|May 24, 2013
Synthesis and biological evaluation of new creatine fatty esters revealed dodecyl creatine ester as a promising drug candidate for the treatment of the creatine transporter deficiencyAlexandra Trotier-Faurion, Sophie Dézard, Frédéric Taran, et al.
Journal of Inherited Metabolic Disease|October 23, 2014
Lung involvement in children with lysinuric protein intoleranceSarah Valimahamed-Mitha, Laureline Berteloot, Héloise Ducoin, et al.
Orphanet Journal of Rare Diseases|November 1, 2025
Medical expenses and care pathways of patients with Pompe receiving myozyme: an observational study based on the French national healthcare databaseAlicia Le Bras, Pascale De Lonlay, Shahram Attarian, et al.
Seminars in Pediatric Surgery|December 28, 2010
The surgical management of atypical forms of congenital hyperinsulinismCarmen Capito, Pascale de Lonlay, Virginie Verkarre, et al.
Bulletin De L'Academie Nationale De Medecine|July 31, 2008
[Hyperinsulinism in children: new concepts - the role of imaging]Francis Brunelle, Maria Ribeiro, Nathalie Boddaert, et al.
Pageof 26

Showing results (11-20 of 257) with videos related to

Sort By:
Pageof 26
Journal of Clinical Immunology|August 2, 2014
Inborn errors of metabolism underlying primary immunodeficienciesNima Parvaneh, Pierre Quartier, Parastoo Rostami, et al.
Vaccine|October 31, 2015
Vaccination coverage of patients with inborn errors of metabolism and the attitudes of their parents towards vaccinesMarta Cerutti, Pascale De Lonlay, Francesca Menni, et al.
Journal of Hepatology|July 12, 2011
Mutation in the mitochondrial translation elongation factor EFTs results in severe infantile liver failureVanessa Vedrenne, Louise Galmiche, Dominique Chretien, 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.
Journal of AAPOS : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus|February 5, 2020
Bilateral dendriform ulcer leading to an early diagnosis of tyrosinemia type 2Gilles C Martin, Pascale de Lonlay, Thibaut Chapron, et al.
Journal of Medicinal Chemistry|May 24, 2013
Synthesis and biological evaluation of new creatine fatty esters revealed dodecyl creatine ester as a promising drug candidate for the treatment of the creatine transporter deficiencyAlexandra Trotier-Faurion, Sophie Dézard, Frédéric Taran, et al.
Journal of Inherited Metabolic Disease|October 23, 2014
Lung involvement in children with lysinuric protein intoleranceSarah Valimahamed-Mitha, Laureline Berteloot, Héloise Ducoin, et al.
Orphanet Journal of Rare Diseases|November 1, 2025
Medical expenses and care pathways of patients with Pompe receiving myozyme: an observational study based on the French national healthcare databaseAlicia Le Bras, Pascale De Lonlay, Shahram Attarian, et al.
Seminars in Pediatric Surgery|December 28, 2010
The surgical management of atypical forms of congenital hyperinsulinismCarmen Capito, Pascale de Lonlay, Virginie Verkarre, et al.
Bulletin De L'Academie Nationale De Medecine|July 31, 2008
[Hyperinsulinism in children: new concepts - the role of imaging]Francis Brunelle, Maria Ribeiro, Nathalie Boddaert, et al.
Pageof 26