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12 results on '"Baruteau, Julien"'

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1. Natural history of epilepsy in argininosuccinic aciduria provides new insights into pathophysiology: A retrospective international study

2. Inherited and acquired vitamin B12 deficiencies: Which administration route to choose for supplementation?

3. Interim Safety, Biomarker, and Efficacy Data From Imagine-1: A Phase 1/2 Open-label, Multicenter Study to Assess the Safety, Tolerability, and Efficacy of a Single Dose, ICM Administration of PBGM01 in Subjects with Type I (Early Onset) and 10. Type IIa (Late Onset) Infantile GM1 Gangliosidosis (GM1)

4. Phase 1/2 open-label, multi-center study to assess the safety, tolerability and efficacy of a single dose of PBGM01 delivered into the cisterna magna of subjects with type 1 (early onset) and type 2a (late onset) infantile GM1 gangliosidosis

5. Pregnancy outcome in Refsum disease: Affected fetuses and children born to an affected mother

6. Novel Therapies For Mucopolysaccharidosis Typeiii

8. Ascending vaginal infection using bioluminescent bacteria evokes intrauterine inflammation, preterm birth, and neonatal brain injury in pregnant mice

9. Argininosuccinic aciduria fosters neuronal nitrosative stress reversed by Asl gene transfer

10. Le syndrome du QT long congénital : une cause sous-estimée de la mort subite inexpliquée du nourrisson. [Long QT syndrome: an underestimated cause of sudden infant death]

11. ASL expression in ALDH1A1+ neurons in the substantia nigra metabolically contributes to neurodegenerative phenotype

12. Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency

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