Kolexia
Barrot Sandrine
Pharmacien
Hôpital Bichat-Claude-Bernard
Paris, France
59 Activités
0 Followers

Scientifique
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{{person.topmesh1.name}} Troubles congénitaux de la glycosylation Erreurs innées du métabolisme glucidique Troubles de la motricité Hémiplégie Dystrophies musculaires Chorée Fibrose Déficience intellectuelle Perte d'audition

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Dernières activités

Efficacy of oral manganese and D-galactose therapy in a patient bearing a novel TMEM165 variant.
Translational research : the journal of laboratory and clinical medicine   25 novembre 2023
Association between acute complications in PMM2-CDG patients and haemostasis anomalies: Data from a multicentric study and suggestions for acute management.
Molecular genetics and metabolism   31 juillet 2023
GGPS1-associated muscular dystrophy with and without hearing loss
Abstracts from the 55th European Society of Human Genetics (ESHG) Conference   01 mai 2023
Prospective Multicenter Validation of a Simple Blood Test for the Diagnosis of Glut1 Deficiency Syndrome.
Neurology   19 avril 2023
GGPS1-associated muscular dystrophy with and without hearing loss.
Annals of clinical and translational neurology   23 juillet 2022
Increased carbohydrate deficient transferrin: Whisky or candy?
JHEP reports : innovation in hepatology   20 avril 2022
Dystroglycanopathies: About Numerous Genes Involved in Glycosylation of One Single Glycoprotein.
Journal of neuromuscular diseases   09 avril 2022
Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings.
American journal of human genetics   14 octobre 2021
High-throughput imaging of ATG9A distribution as a diagnostic functional assay for adaptor protein complex 4-associated hereditary spastic paraplegia.
Brain communications   25 septembre 2021
GLUT-HEP: Phase II Open Label Study Using Triheptanoin in Patients With Glucose Type 1 Transporter Deficiency GLUT1-DS
Essai Clinique (Ultragenyx)   24 août 2021