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Nature Communications
|
June 7, 2022
Neonatal gene therapy achieves sustained disease rescue of maple syrup urine disease in mice
Clément Pontoizeau, Marcelo Simon-Sola, Clovis Gaborit, et al.
Molecular Genetics and Metabolism
|
February 7, 2025
Bone mineral density in French adults with early-treated phenylketonuria
Elisa Dybal, François Maillot, François Feillet, et al.
Orphanet Journal of Rare Diseases
|
May 16, 2022
Intravenous administration of a branched-chain amino-acid-free solution in children and adults with acute decompensation of maple syrup urine disease: a prospective multicentre observational study
Jean-Meidi Alili, Marie-Pierre Berleur, Marie-Caroline Husson, et al.
Journal of Neurology
|
December 12, 2024
Neuropsychological profile of French adults with early-treated phenylketonuria: a multicenter study
Maxime Brachet, Sybil Charrière, Claire Douillard, et al.
Journal of Inherited Metabolic Disease
|
October 24, 2020
Long term outcome of MPI-CDG patients on D-mannose therapy
Muriel Girard, Claire Douillard, Dominique Debray, et al.
Mitochondrion
|
February 20, 2026
From variant interpretation to structural discovery: A new Zinc-binding domain in PARS2
Célia Hoebeke, Camille Engel, Claire-Marine Berat, et al.
Molecular Genetics and Metabolism
|
February 27, 2018
Fluxomic assay-assisted diagnosis orientation in a cohort of 11 patients with myopathic form of CPT2 deficiency
Monique Fontaine, Isabelle Kim, Anne-Frédérique Dessein, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
March 23, 2024
Vitamin deficiencies in children: Lessons from clinical and neuroimaging findings
Gabrielle Dupuy, Charles-Joris Roux, Rémi Barrois, et al.
Molecular Genetics and Metabolism
|
June 18, 2021
Should patients with Phosphomannomutase 2-CDG (PMM2-CDG) be screened for adrenal insufficiency?
Anna Čechová, Tomáš Honzík, Andrew C Edmondson, et al.
Frontiers in Genetics
|
February 13, 2024
Recurrent "outsider" intronic variation in the <i>SLC5A</i>6 gene causes severe mixed axonal and demyelinating neuropathy, cyclic vomiting and optic atrophy in 3 families from Maghreb
Lamisse Mansour-Hendili, Cyril Gitiaux, Madeleine Harion, et al.
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Search research articles
Search
Showing results (81-90 of 159) with videos related to
Sort By:
Page
of 16
Nature Communications
|
June 7, 2022
Neonatal gene therapy achieves sustained disease rescue of maple syrup urine disease in mice
Clément Pontoizeau, Marcelo Simon-Sola, Clovis Gaborit, et al.
Molecular Genetics and Metabolism
|
February 7, 2025
Bone mineral density in French adults with early-treated phenylketonuria
Elisa Dybal, François Maillot, François Feillet, et al.
Orphanet Journal of Rare Diseases
|
May 16, 2022
Intravenous administration of a branched-chain amino-acid-free solution in children and adults with acute decompensation of maple syrup urine disease: a prospective multicentre observational study
Jean-Meidi Alili, Marie-Pierre Berleur, Marie-Caroline Husson, et al.
Journal of Neurology
|
December 12, 2024
Neuropsychological profile of French adults with early-treated phenylketonuria: a multicenter study
Maxime Brachet, Sybil Charrière, Claire Douillard, et al.
Journal of Inherited Metabolic Disease
|
October 24, 2020
Long term outcome of MPI-CDG patients on D-mannose therapy
Muriel Girard, Claire Douillard, Dominique Debray, et al.
Mitochondrion
|
February 20, 2026
From variant interpretation to structural discovery: A new Zinc-binding domain in PARS2
Célia Hoebeke, Camille Engel, Claire-Marine Berat, et al.
Molecular Genetics and Metabolism
|
February 27, 2018
Fluxomic assay-assisted diagnosis orientation in a cohort of 11 patients with myopathic form of CPT2 deficiency
Monique Fontaine, Isabelle Kim, Anne-Frédérique Dessein, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
March 23, 2024
Vitamin deficiencies in children: Lessons from clinical and neuroimaging findings
Gabrielle Dupuy, Charles-Joris Roux, Rémi Barrois, et al.
Molecular Genetics and Metabolism
|
June 18, 2021
Should patients with Phosphomannomutase 2-CDG (PMM2-CDG) be screened for adrenal insufficiency?
Anna Čechová, Tomáš Honzík, Andrew C Edmondson, et al.
Frontiers in Genetics
|
February 13, 2024
Recurrent "outsider" intronic variation in the <i>SLC5A</i>6 gene causes severe mixed axonal and demyelinating neuropathy, cyclic vomiting and optic atrophy in 3 families from Maghreb
Lamisse Mansour-Hendili, Cyril Gitiaux, Madeleine Harion, et al.
Page
of 16