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44 results on '"Clément, Pontoizeau"'

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1. Citrulline in the management of patients with urea cycle disorders

2. Neonatal gene therapy achieves sustained disease rescue of maple syrup urine disease in mice

3. Real‐world management of maple syrup urine disease (MSUD) metabolic decompensations with branched chain amino acid‐free formulas in France and Germany: A retrospective observational study

4. Long-term renal outcome in methylmalonic acidemia in adolescents and adults

5. Enteral tube feeding in patients receiving dietary treatment for metabolic diseases: A retrospective analysis in a large French cohort

6. Identification of Modulators of the C. elegans Aryl Hydrocarbon Receptor and Characterization of Transcriptomic and Metabolic AhR-1 Profiles

7. In Vivo 2-Hydroxyglutarate Monitoring With Edited MR Spectroscopy for the Follow-up ofIDH-Mutant Diffuse Gliomas

8. Enasidenib treatment in two individuals with D-2-hydroxyglutaric aciduria carrying a germline IDH2 mutation

10. Clinical and biological characterization of 20 patients with <scp>TANGO2</scp> deficiency indicates novel triggers of metabolic crises and no primary energetic defect

11. Management of 35 critically ill hyperammonemic neonates: Role of early administration of metabolite scavengers and continuous hemodialysis

12. Neonatal factors related to survival and intellectual and developmental outcome of patients with early-onset urea cycle disorders

13. Long‐term outcome of methylmalonic aciduria after kidney, liver, or combined liver‐kidney transplantation: The French experience

14. In Vivo 2-Hydroxyglutarate Monitoring With Edited MR Spectroscopy for the Follow-up of

15. Cystathionine as a marker for 1p/19q codeleted gliomas by in vivo magnetic resonance spectroscopy

16. OTC deficiency in females: Phenotype-genotype correlation based on a 130-family cohort

17. Long-term renal outcome in methylmalonic acidemia in adolescents and adults

18. Enteral tube feeding in patients receiving dietary treatment for metabolic diseases: A retrospective analysis in a large French cohort

19. DNA repair deficiency sensitizes lung cancer cells to NAD+ biosynthesis blockade

21. Autism spectrum disorders in propionic acidemia patients

22. Adverse events associated with currently used medical treatments for cystinuria and treatment goals: results from a series of 442 patients in France

23. Central nervous system complications in adult cystinosis patients

24. Epileptic Phenotype of Two Siblings with Asparagine Synthesis Deficiency Mimics Neonatal Pyridoxine-Dependent Epilepsy

25. 5-Fluorouracil rechallenge after 5-fluorouracil-induced hyperammonemic encephalopathy

26. Evolution of Newborns' Urinary Metabolomic Profiles According to Age and Growth

27. Ketone Bodies as a Possible Adjuvant to Ketogenic Diet in PDHc Deficiency but Not in GLUT1 Deficiency

28. Metabolomics Analysis Uncovers That Dietary Restriction Buffers Metabolic Changes Associated with Aging in Caenorhabditis elegans

29. Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy

30. Broad-ranging natural metabotype variation drives physiological plasticity in healthy control inbred rat strains

31. Metabolomics-on-a-Chip and Predictive Systems Toxicology in Microfluidic Bioartificial Organs

32. Targeted projection NMR spectroscopy for unambiguous metabolic profiling of complex mixtures

33. Metabolomic profiles of hepatocellular carcinoma in a European prospective cohort

34. Hyperprolinemia in Type 2 Glutaric Aciduria and MADD-Like Profiles

35. NAMPT inhibition is a novel synthetic lethal therapeutic approach exploiting nuclear-mitochondrial crosstalk in ERCC1-deficient populations

36. Downregulation of transcription factor E4F1 in hepatocarcinoma cells: HBV-dependent effects on autophagy, proliferation and metabolism

37. A serum nuclear magnetic resonance-based metabolomic signature of advanced metastatic human breast cancer

38. Batch profiling calibration for robust NMR metabonomic data analysis

39. SRV: an open-source toolbox to accelerate the recovery of metabolic biomarkers and correlations from metabolic phenotyping datasets

40. Targeted projection NMR spectroscopy for unambiguous metabolic profiling of complex mixtures

41. 715 A Multi-marker Approach for Early Detection of HBV-related Hepatocellular Carcinoma in Areas of High Incidence

42. 637 A NMR METABONOMIC APPROACH TO EXPLORE EARLY BIOMARKERS OF HEPATOCELLULAR CARCINOMA IN THE EUROPEAN PROSPECTIVE INVESTIGATION INTO CANCER AND NUTRITION (EPIC)

43. Use of metabolic profiling by metabolomic technology to distinguish between localized and metastatic breast cancer patients

44. Update on Lysinuric Protein Intolerance, a Multi-faceted Disease Retrospective cohort analysis from birth to adulthood

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