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Pascale de Lonlay

Showing results (21-30 of 257) with videos related to

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Molecular Genetics and Metabolism|June 12, 2019
Clinical, biochemical and genetic characteristics of a cohort of 101 French and Italian patients with HPRT deficiencyAnnalisa Madeo, Maja Di Rocco, Anaïs Brassier, et al.
Journal of Epidemiology and Population Health|March 20, 2025
Analyse des dépenses de santé et des parcours de soins des patients atteints de la maladie de Pompe recevant du Myozyme : une étude observationnelle basée sur les données du système national des données de santé (SNDS)Alicia LE Bras, Arnaud Nze Ossima, Pascale DE Lonlay, et al.
European Journal of Medical Genetics|July 7, 2012
Pyruvate dehydrogenase deficiency caused by a new mutation of PDHX gene in two Moroccan patientsMariam Tajir, Jean Baptiste Arnoux, Audrey Boutron, et al.
Journal of Inherited Metabolic Disease|January 21, 2015
Fructose 1,6-bisphosphatase deficiency: clinical, biochemical and genetic features in French patientsElise Lebigot, Anaïs Brassier, Mokhtar Zater, et al.
Frontiers in Psychology|March 23, 2026
Psychosocial issues of neonatal screening in the context of its major expansion: a scoping reviewAnne-Laure Sébert, Marcela Gargiulo, Pascale De Lonlay, et al.
Orphanet Journal of Rare Diseases|September 20, 2019
Diagnosis and phenotypic assessment of trimethylaminuria, and its treatment with riboflavin: <sup>1</sup>H NMR spectroscopy and genetic testingNadia Bouchemal, Lisa Ouss, Anaïs Brassier, et al.
Circulation|December 1, 1999
Arrhythmias and conduction defects as presenting symptoms of fatty acid oxidation disorders in childrenD Bonnet, D Martin, Pascale De Lonlay, et al.
Pharmaceutical Development and Technology|January 11, 2021
Formulation and stability study of hydroxychloroquine sulfate oral suspensionsSarah El Mershati, Agathe Thouvenin, Philippe-Henri Secretan, et al.
Medecine Sciences : M/S|November 9, 2005
[Radiological innovations in the screening and diagnosis of the inborn errors of metabolism]Nathalie Boddaert, Maria Ribeiro, Guy Touati, et al.
Pediatrics|October 27, 2010
Laronidase for cardiopulmonary disease in Hurler syndrome 12 years after bone marrow transplantationVassili Valayannopoulos, Jacques de Blic, Nizar Mahlaoui, et al.
Pageof 26

Showing results (21-30 of 257) with videos related to

Sort By:
Pageof 26
Molecular Genetics and Metabolism|June 12, 2019
Clinical, biochemical and genetic characteristics of a cohort of 101 French and Italian patients with HPRT deficiencyAnnalisa Madeo, Maja Di Rocco, Anaïs Brassier, et al.
Journal of Epidemiology and Population Health|March 20, 2025
Analyse des dépenses de santé et des parcours de soins des patients atteints de la maladie de Pompe recevant du Myozyme : une étude observationnelle basée sur les données du système national des données de santé (SNDS)Alicia LE Bras, Arnaud Nze Ossima, Pascale DE Lonlay, et al.
European Journal of Medical Genetics|July 7, 2012
Pyruvate dehydrogenase deficiency caused by a new mutation of PDHX gene in two Moroccan patientsMariam Tajir, Jean Baptiste Arnoux, Audrey Boutron, et al.
Journal of Inherited Metabolic Disease|January 21, 2015
Fructose 1,6-bisphosphatase deficiency: clinical, biochemical and genetic features in French patientsElise Lebigot, Anaïs Brassier, Mokhtar Zater, et al.
Frontiers in Psychology|March 23, 2026
Psychosocial issues of neonatal screening in the context of its major expansion: a scoping reviewAnne-Laure Sébert, Marcela Gargiulo, Pascale De Lonlay, et al.
Orphanet Journal of Rare Diseases|September 20, 2019
Diagnosis and phenotypic assessment of trimethylaminuria, and its treatment with riboflavin: <sup>1</sup>H NMR spectroscopy and genetic testingNadia Bouchemal, Lisa Ouss, Anaïs Brassier, et al.
Circulation|December 1, 1999
Arrhythmias and conduction defects as presenting symptoms of fatty acid oxidation disorders in childrenD Bonnet, D Martin, Pascale De Lonlay, et al.
Pharmaceutical Development and Technology|January 11, 2021
Formulation and stability study of hydroxychloroquine sulfate oral suspensionsSarah El Mershati, Agathe Thouvenin, Philippe-Henri Secretan, et al.
Medecine Sciences : M/S|November 9, 2005
[Radiological innovations in the screening and diagnosis of the inborn errors of metabolism]Nathalie Boddaert, Maria Ribeiro, Guy Touati, et al.
Pediatrics|October 27, 2010
Laronidase for cardiopulmonary disease in Hurler syndrome 12 years after bone marrow transplantationVassili Valayannopoulos, Jacques de Blic, Nizar Mahlaoui, et al.
Pageof 26