232 results on '"Baruteau, Julien"'
Search Results
2. Modelling urea cycle disorders using iPSCs
3. ECUR-506 in Neonatal OTC Deficiency Phase I/II
4. Generation of induced pluripotent stem cells (UCLi024-A) from a patient with argininosuccinate lyase deficiency carrying a homozygous c.437G > A (p.Arg146Gln) mutation
5. mRNA therapy corrects defective glutathione metabolism and restores ureagenesis in preclinical argininosuccinic aciduria
6. Liver‐directed gene therapy for inherited metabolic diseases
7. The incidence of movement disorder increases with age and contrasts with subtle and limited neuroimaging abnormalities in argininosuccinic aciduria
8. cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing
9. The exosome journey: from biogenesis to uptake and intracellular signalling
10. Ascending Vaginal Infection Using Bioluminescent Bacteria Evokes Intrauterine Inflammation, Preterm Birth, and Neonatal Brain Injury in Pregnant Mice
11. Beclin‐1‐mediated activation of autophagy improves proximal and distal urea cycle disorders
12. Natural history of epilepsy in argininosuccinic aciduria provides new insights into pathophysiology: A retrospective international study
13. Prolonged respiratory failure responds to conventional therapy in isolated homocysteine remethylation defects
14. Generation of light-producing somatic-transgenic mice using adeno-associated virus vectors
15. Gene therapy for urea cycle defects: An update from historical perspectives to future prospects.
16. Gene therapy for urea cycle defects: An update from historical perspectives to future prospects
17. Assessment of Pre-Clinical Liver Models Based on Their Ability to Predict the Liver-Tropism of Adeno-Associated Virus Vectors
18. Ex vivoprimary liver sections recapitulate disease phenotype and therapeutic rescue for liver monogenic diseases
19. Recapitulation of Skewed X-Inactivation in Female Ornithine Transcarbamylase-Deficient Primary Human Hepatocytes in the FRG Mouse: A Novel System for Developing Epigenetic Therapies.
20. Clinical experience with glycerol phenylbutyrate in 20 patients with urea cycle disorders at a UK paediatric centre.
21. Updated 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, intra-cisterna magna (ICM) administration of PBGM01 in subjects with type I (early onset) and type IIA (late onset) infantile GM1 gangliosidosis (GM1)
22. Gene therapy for monogenic liver diseases: clinical successes, current challenges and future prospects
23. Expanding the phenotype in argininosuccinic aciduria: need for new therapies
24. Inherited and acquired vitamin B12 deficiencies: Which administration route to choose for supplementation?
25. Three-Country Snapshot of Ornithine Transcarbamylase Deficiency
26. Natural history of epilepsy in argininosuccinic aciduria provides new insights into pathophysiology
27. mRNA therapy restores ureagenesis and corrects glutathione metabolism in argininosuccinic aciduria
28. Assessment of pre-clinical liver models based on their ability to predict the liver-tropism of AAV vectors
29. Transcatheter closure of patent ductus arteriosus: Past, present and future
30. Prolonged respiratory failure responds to conventional therapy in isolated homocysteine remethylation defects.
31. Argininosuccinic aciduria fosters neuronal nitrosative stress reversed by Asl gene transfer
32. FRI-166 Impaired nuclear glycogen metabolism affects liver homeostasis in Argininosuccinic aciduria
33. 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)
34. Direct replacement of oral sodium benzoate with glycerol phenylbutyrate in children with urea cycle disorders
35. 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
36. Safety and efficacy of an engineered hepatotropic AAV gene therapy for ornithine transcarbamylase deficiency in cynomolgus monkeys
37. 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
38. Pregnancy outcome in Refsum disease: Affected fetuses and children born to an affected mother
39. Neonatal Hemochromatosis: Diagnostic Work-Up Based on a Series of 56 Cases of Fetal Death and Neonatal Liver Failure
40. Clinical and biological features at diagnosis in mitochondrial fatty acid beta-oxidation defects: a French pediatric study of 187 patients
41. Novel Therapies For Mucopolysaccharidosis Typeiii
42. Clinical and biological features at diagnosis in mitochondrial fatty acid beta-oxidation defects: a French pediatric study from 187 patients. Complementary data
43. Role of congenital long-QT syndrome in unexplained sudden infant death: proposal for an electrocardiographic screening in relatives
44. Argininosuccinic aciduria: Recent pathophysiological insights and therapeutic prospects
45. Gene therapy restores dopamine transporter expression and ameliorates pathology in iPSC and mouse models of infantile parkinsonism
46. Clinical applications for exosomes: Are we there yet?
47. Gene Therapy for Lysosomal Storage Disorders: Ongoing Studies and Clinical Development
48. Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency
49. Beclin‐1‐mediated activation of autophagy improves proximal and distal urea cycle disorders
50. Ont collaboré à cet ouvrage
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