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A randomized, controlled, double-blind, crossover trial of triheptanoin in alternating hemiplegia of childhood
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Samantha Caillet
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Sandrine Leroy
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Constance Flamand-Roze
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inserm-01612741v1
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Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy
Kanetee Busiah
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Cécile Laroche
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hal-02281951v1
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Contiguous mutation syndrome in the era of high-throughput sequencing
Maéva Langouët Langouët
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Karine Siquier-Pernet
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Long-Term Follow-Up of Bezafibrate Treatment in Patients With the Myopathic Form of Carnitine Palmitoyltransferase 2 Deficiency
J Bonnefont
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J Bastin
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P Laforêt
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F Aubey
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A Mogenet
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Journal articles
inserm-02896226v1
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Intra-monocyte Pharmacokinetics of Imiglucerase Supports a Possible Personalized Management of Gaucher Disease Type 1
Juliette Berger
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Marie Vigan
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Thu Thuy Nguyen
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Roseline Froissart
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Journal articles
hal-02052295v1
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Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia
Marie Coutelier
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Cyril Goizet
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Alexandra Durr
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Florence Habarou
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Journal articles
hal-03157279v1
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Deep characterization of the anti-drug antibodies developed in Fabry disease patients, a prospective analysis from the French multicenter cohort FFABRY
Wladimir Mauhin
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Olivier Lidove
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Damien Amelin
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Foudil Lamari
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Catherine Caillaud
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Journal articles
hal-02086919v1
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Dietary anaplerotic therapy improves peripheral tissue energy metabolism in patients with Huntington disease
Fanny Mochel
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Sandrine Duteil
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Cecilia Marelli
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Céline Jauffret
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Agnès Barles
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hal-00540038v1
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Long-term exposure to Myozyme results in a decrease of anti-drug antibodies in late-onset Pompe disease patients
Elisa Masat
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Pascal Laforêt
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Marie de Antonio
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Guillaume Corre
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Barbara Perniconi
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Journal articles
hal-01404918v1
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A new lysosomal storage disorder resembling Morquio syndrome in sibs
Laurence Perrin
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Odile Fenneteau
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Brice Ilharreborde
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Yline Capri
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Marion Gérard
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Journal articles
hal-02342667v1
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Dried Blood Spot Recovery: A Microfluidic Technique for Fast Elution Without Dilution
Étienne Coz
,
Alexandre Vilquin
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Élian Martin
,
Pierre Garneret
,
Yannick Raguel
et al.
2023
Preprints, Working Papers, ...
hal-04013966v1
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Design of potent mannose 6-phosphate analogues for the functionalization of lysosomal enzymes to improve the treatment of pompe disease
Khaled El Cheikh
,
Ilaria Basile
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Afitz da Silva
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Coralie Bernon
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Pierre Cerutti
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Journal articles
istex
hal-01606469v1
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Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly
Geraldine Mollet
,
David Schapiro
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Marie-Claire Daugeron
,
Weizhen Tan
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Olivier Gribouval
et al.
Journal articles
hal-02187752v1
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A Thermolabile Aldolase A Mutant Causes Fever-Induced Recurrent Rhabdomyolysis without Hemolytic Anemia
Asmaa Mamoune
,
Michel Bahuau
,
Yamina Hamel
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Valérie Serre
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Michele Pelosi
et al.
Journal articles
hal-01342663v1
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Pregnancy in MNGIE: a clinical and metabolic honeymoon
Pauline Pappalardo
,
Jean‐françois Benoist
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Bridget Bax
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Clarisse Carra‐dallière
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Cecilia Marelli
et al.
Journal articles
hal-02995577v1
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Identification of Modulators of the C. elegans Aryl Hydrocarbon Receptor and Characterization of Transcriptomic and Metabolic AhR-1 Profiles
Lucie Larigot
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Linh-Chi Bui
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Marine de Bouvier
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Ophélie Pierre
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Grégory Pinon
et al.
Journal articles
hal-03745310v1
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CTP synthetase activity assay by liquid chromatography tandem mass spectrometry in the multiple reaction monitoring mode
Anne-Claire Boschat
,
Norbert Minet
,
Emmanuel Martin
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Robert Barouki
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Sylvain Latour
et al.
Journal articles
hal-02391558v1
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Impaired lymphocyte function and differentiation in CTPS1-deficient patients result from a hypomorphic homozygous mutation
Emmanuel Martin
,
Norbert Minet
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Anne-Claire Boschat
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Sylvia Sanquer
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Steicy Sobrino
et al.
Journal articles
hal-02937426v1
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Defects in t6A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndrome
Christelle C. Arrondel
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Sophia Missoury
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Rozemarijn Snoek
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Julie Patat
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Giulia Menara
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Journal articles
inserm-02322309v1
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Identification of a new stilbene-derived inducer of paraoxonase 1 and ligand of the Aryl hydrocarbon Receptor.
Erwan Guyot
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Xavier Coumoul
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Jean-François Chassé
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Farid Khallouki
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Jean François Savouret
et al.
Journal articles
inserm-00743456v1
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Cornea verticillata and acroparesthesia efficiently discriminate clusters of severity in Fabry disease
Wladimir Mauhin
,
Olivier Benveniste
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Damien Amelin
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Clémence Montagner
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Foudil Lamari
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Journal articles
hal-02871577v1
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A driver role for GABA metabolism in controlling stem and proliferative cell state through GHB production in glioma
Elias A El-Habr
,
Gustavo Luiz Dubois
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Fanny Burel-Vandenbos
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Alexandra Bogeas
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Joanna Lipecka
et al.
Journal articles
inserm-01481051v1
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