Search research articles
Contact Us
Filters
Showing results (41-50 of 54) with videos related to
Page
of 6
Sort By:
Orphanet Journal of Rare Diseases
|
April 1, 2016
Carglumic acid enhances rapid ammonia detoxification in classical organic acidurias with a favourable risk-benefit profile: a retrospective observational study
Vassili Valayannopoulos, Julien Baruteau, Maria Bueno Delgado, et al.
The Journal of Pediatrics
|
March 9, 2020
Health Status of French Young Patients with Inborn Errors of Metabolism with Lifelong Restricted Diet
Aline Cano, Noemie Resseguier, Abdoulaye Ouattara, et al.
The Journal of Pediatrics
|
November 17, 2021
Determinants of Quality of Life in Children with Inborn Errors of Metabolism Receiving a Restricted Diet
Abdoulaye Ouattara, Noemie Resseguier, Aline Cano, et al.
Orphanet Journal of Rare Diseases
|
December 16, 2015
Genotype-phenotype associations in French patients with phenylketonuria and importance of genotype for full assessment of tetrahydrobiopterin responsiveness
Elise Jeannesson-Thivisol, François Feillet, Céline Chéry, et al.
Ebiomedicine
|
January 11, 2020
Population and evolutionary genetics of the PAH locus to uncover overdominance and adaptive mechanisms in phenylketonuria: Results from a multiethnic study
Abderrahim Oussalah, Elise Jeannesson-Thivisol, Céline Chéry, et al.
Journal of Inherited Metabolic Disease
|
September 17, 2019
Long-term outcome of methylmalonic aciduria after kidney, liver, or combined liver-kidney transplantation: The French experience
Anaïs Brassier, Pauline Krug, Florence Lacaille, et al.
Journal of Inherited Metabolic Disease
|
March 31, 2022
Postauthorization safety study of betaine anhydrous
Ulrike Mütze, Florian Gleich, Sven F Garbade, et al.
Journal of Inherited Metabolic Disease
|
September 15, 2020
Clinical and biological characterization of 20 patients with TANGO2 deficiency indicates novel triggers of metabolic crises and no primary energetic defect
Claire-Marine Bérat, Sebastian Montealegre, Arnaud Wiedemann, et al.
European Journal of Neurology
|
May 26, 2023
Long-term follow-up of 64 children with classical infantile-onset Pompe disease since 2004: A French real-life observational study
Marine Tardieu, Céline Cudejko, Aline Cano, et al.
Bone Marrow Transplantation
|
December 9, 2022
Long term follow-up after haematopoietic stem cell transplantation for mucopolysaccharidosis type I-H: a retrospective study of 51 patients
Antoine Gardin, Martin Castelle, Samia Pichard, et al.
Page
of 6
Search research articles
Search
Showing results (41-50 of 54) with videos related to
Sort By:
Page
of 6
Orphanet Journal of Rare Diseases
|
April 1, 2016
Carglumic acid enhances rapid ammonia detoxification in classical organic acidurias with a favourable risk-benefit profile: a retrospective observational study
Vassili Valayannopoulos, Julien Baruteau, Maria Bueno Delgado, et al.
The Journal of Pediatrics
|
March 9, 2020
Health Status of French Young Patients with Inborn Errors of Metabolism with Lifelong Restricted Diet
Aline Cano, Noemie Resseguier, Abdoulaye Ouattara, et al.
The Journal of Pediatrics
|
November 17, 2021
Determinants of Quality of Life in Children with Inborn Errors of Metabolism Receiving a Restricted Diet
Abdoulaye Ouattara, Noemie Resseguier, Aline Cano, et al.
Orphanet Journal of Rare Diseases
|
December 16, 2015
Genotype-phenotype associations in French patients with phenylketonuria and importance of genotype for full assessment of tetrahydrobiopterin responsiveness
Elise Jeannesson-Thivisol, François Feillet, Céline Chéry, et al.
Ebiomedicine
|
January 11, 2020
Population and evolutionary genetics of the PAH locus to uncover overdominance and adaptive mechanisms in phenylketonuria: Results from a multiethnic study
Abderrahim Oussalah, Elise Jeannesson-Thivisol, Céline Chéry, et al.
Journal of Inherited Metabolic Disease
|
September 17, 2019
Long-term outcome of methylmalonic aciduria after kidney, liver, or combined liver-kidney transplantation: The French experience
Anaïs Brassier, Pauline Krug, Florence Lacaille, et al.
Journal of Inherited Metabolic Disease
|
March 31, 2022
Postauthorization safety study of betaine anhydrous
Ulrike Mütze, Florian Gleich, Sven F Garbade, et al.
Journal of Inherited Metabolic Disease
|
September 15, 2020
Clinical and biological characterization of 20 patients with TANGO2 deficiency indicates novel triggers of metabolic crises and no primary energetic defect
Claire-Marine Bérat, Sebastian Montealegre, Arnaud Wiedemann, et al.
European Journal of Neurology
|
May 26, 2023
Long-term follow-up of 64 children with classical infantile-onset Pompe disease since 2004: A French real-life observational study
Marine Tardieu, Céline Cudejko, Aline Cano, et al.
Bone Marrow Transplantation
|
December 9, 2022
Long term follow-up after haematopoietic stem cell transplantation for mucopolysaccharidosis type I-H: a retrospective study of 51 patients
Antoine Gardin, Martin Castelle, Samia Pichard, et al.
Page
of 6