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Journal of Inherited Metabolic Disease
|
April 16, 2024
Mass cytometry reveals atypical immune profile notably impaired maturation of memory CD4 T with Gb3-related CD27 expression in CD4 T cells in Fabry disease
Wladimir Mauhin, Gaelle Dzangue-Tchoupou, Damien Amelin, et al.
Human Mutation
|
April 10, 2013
A rare motor neuron deleterious missense mutation in the DPYSL3 (CRMP4) gene is associated with ALS
Hélène Blasco, Nathalie Bernard-Marissal, Patrick Vourc'h, et al.
Journal of Inherited Metabolic Disease
|
May 20, 2021
Adult-onset diagnosis of urea cycle disorders: Results of a French cohort of 71 patients
Ségolène Toquet, Marta Spodenkiewicz, Claire Douillard, et al.
Biomed Research International
|
May 9, 2018
Safety of Intravenous Immunoglobulin (Tegeline®), Administered at Home in Patients with Autoimmune Disease: Results of a French Study
Eric Hachulla, Gwendal Le Masson, Guilhem Solé, et al.
Plos One
|
May 23, 2020
Cornea verticillata and acroparesthesia efficiently discriminate clusters of severity in Fabry disease
Wladimir Mauhin, Olivier Benveniste, Damien Amelin, et al.
Molecular Genetics and Metabolism
|
December 20, 2025
Neurological and psychiatric issues in 187 adults with early-treated PKU: The ECOPHEN study
Chloé Giret, Sybil Charrière, François Feillet, et al.
Orphanet Journal of Rare Diseases
|
August 2, 2018
Deep characterization of the anti-drug antibodies developed in Fabry disease patients, a prospective analysis from the French multicenter cohort FFABRY
Wladimir Mauhin, Olivier Lidove, Damien Amelin, et al.
BMJ Open
|
September 3, 2014
Searching for a link between the L-BMAA neurotoxin and amyotrophic lateral sclerosis: a study protocol of the French BMAALS programme
Aurélie Delzor, Philippe Couratier, Farid Boumédiène, 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.
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Search research articles
Search
Showing results (21-30 of 30) with videos related to
Sort By:
Page
of 3
You have reached the last page of results.
This site can display upto 30 results.
Journal of Inherited Metabolic Disease
|
April 16, 2024
Mass cytometry reveals atypical immune profile notably impaired maturation of memory CD4 T with Gb3-related CD27 expression in CD4 T cells in Fabry disease
Wladimir Mauhin, Gaelle Dzangue-Tchoupou, Damien Amelin, et al.
Human Mutation
|
April 10, 2013
A rare motor neuron deleterious missense mutation in the DPYSL3 (CRMP4) gene is associated with ALS
Hélène Blasco, Nathalie Bernard-Marissal, Patrick Vourc'h, et al.
Journal of Inherited Metabolic Disease
|
May 20, 2021
Adult-onset diagnosis of urea cycle disorders: Results of a French cohort of 71 patients
Ségolène Toquet, Marta Spodenkiewicz, Claire Douillard, et al.
Biomed Research International
|
May 9, 2018
Safety of Intravenous Immunoglobulin (Tegeline®), Administered at Home in Patients with Autoimmune Disease: Results of a French Study
Eric Hachulla, Gwendal Le Masson, Guilhem Solé, et al.
Plos One
|
May 23, 2020
Cornea verticillata and acroparesthesia efficiently discriminate clusters of severity in Fabry disease
Wladimir Mauhin, Olivier Benveniste, Damien Amelin, et al.
Molecular Genetics and Metabolism
|
December 20, 2025
Neurological and psychiatric issues in 187 adults with early-treated PKU: The ECOPHEN study
Chloé Giret, Sybil Charrière, François Feillet, et al.
Orphanet Journal of Rare Diseases
|
August 2, 2018
Deep characterization of the anti-drug antibodies developed in Fabry disease patients, a prospective analysis from the French multicenter cohort FFABRY
Wladimir Mauhin, Olivier Lidove, Damien Amelin, et al.
BMJ Open
|
September 3, 2014
Searching for a link between the L-BMAA neurotoxin and amyotrophic lateral sclerosis: a study protocol of the French BMAALS programme
Aurélie Delzor, Philippe Couratier, Farid Boumédiène, 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.
Page
of 3