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195 results on '"Rabier D"'

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1. Identification of metabolic and protein markers representative of the impact of mild nitrogen deficit on agronomic performance of maize hybrids.

2. Metabotyping of 30 maize hybrids under early-sowing conditions reveals potential marker-metabolites for breeding.

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3. Multiple congenital anomalies in two boys with mutation in HCFC1 and cobalamin disorder.

4. Serum 2-hydroxyglutarate production in IDH1- and IDH2-mutated de novo acute myeloid leukemia: a study by the Acute Leukemia French Association group.

5. Treatment of acute decompensation of maple syrup urine disease in adult patients with a new parenteral amino-acid mixture.

6. Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias.

7. Renal transplantation in 4 patients with methylmalonic aciduria: a cell therapy for metabolic disease.

8. Dihydrolipoamide dehydrogenase deficiency: a still overlooked cause of recurrent acute liver failure and Reye-like syndrome.

9. Portosystemic shunts: an underdiagnosed but treatable cause of neurological and psychiatric disorders.

10. Kinetic analyses guide the therapeutic decision in a novel form of moderate aromatic Acid decarboxylase deficiency.

11. Successful treatment of severe cardiomyopathy in glycogen storage disease type III With D,L-3-hydroxybutyrate, ketogenic and high-protein diet.

12. Clinical and biochemical heterogeneity associated with fumarase deficiency.

13. Comprehensive cDNA study and quantitative analysis of mutant HADHA and HADHB transcripts in a French cohort of 52 patients with mitochondrial trifunctional protein deficiency.

14. Mevalonate kinase deficiency: a survey of 50 patients.

15. Validation of plasma branched chain amino acids as biomarkers in Huntington disease.

16. Multiple sources of metabolic disturbance in ETHE1-related ethylmalonic encephalopathy.

17. Mitochondrial involvement and erythronic acid as a novel biomarker in transaldolase deficiency.

18. A novel mutation of the ACADM gene (c.145C>G) associated with the common c.985A>G mutation on the other ACADM allele causes mild MCAD deficiency: a case report.

19. Dietary anaplerotic therapy improves peripheral tissue energy metabolism in patients with Huntington's disease.

20. New SUCLG1 patients expanding the phenotypic spectrum of this rare cause of mild methylmalonic aciduria.

21. Management of West syndrome in a patient with methylmalonic aciduria.

22. Cardiomyopathies in propionic aciduria are reversible after liver transplantation.

23. Gestational age-related reference values for amniotic fluid organic acids.

24. Long-term outcome in methylmalonic aciduria: a series of 30 French patients.

25. Secondary creatine deficiency in ornithine delta-aminotransferase deficiency.

26. Multiple OXPHOS deficiency in the liver of a patient with CblA methylmalonic aciduria sensitive to vitamin B(12).

27. Liver hepatoblastoma and multiple OXPHOS deficiency in the follow-up of a patient with methylmalonic aciduria.

28. Evidence of cataplerosis in a patient with neonatal classical galactosemia presenting as citrin deficiency.

29. What's new in metabolic and genetic hypoglycaemias: diagnosis and management.

30. Modified glutamine catabolism in macrophages of Ucp2 knock-out mice.

31. L-arginine metabolism in dog kidney and isolated nephron segments.

32. Early neurological phenotype in 4 children with biallelic PRODH mutations.

33. Early energy deficit in Huntington disease: identification of a plasma biomarker traceable during disease progression.

34. Allogeneic bone marrow transplantation in mevalonic aciduria.

35. Biomarkers identified in inborn errors for lysine, arginine, and ornithine.

36. The use of MapPop1.0 for choosing a QTL mapping sample from an advanced backcross population.

37. Prenatal diagnosis of some metabolic diseases using early amniotic fluid samples: report of a 15 years, experience.

38. Mitochondrial respiratory chain deficiencies expressing the enzymatic deficiency in the hepatic tissue: a study of 31 patients.

39. Methylmalonic and propionic acidurias: management without or with a few supplements of specific amino acid mixture.

40. Contribution of fetal MR imaging in the prenatal diagnosis of Zellweger syndrome.

41. Pyruvate carboxylase deficiency: metabolic characteristics and new neurological aspects.

42. Mitochondrial succinate is instrumental for HIF1alpha nuclear translocation in SDHA-mutant fibroblasts under normoxic conditions.

43. Kinetic modeling of plasma leucine levels during continuous venovenous extracorporeal removal therapy in neonates with maple syrup urine disease.

44. Respiratory chain defects may present only with hypoglycemia.

45. Effect of genetically caused excess of brain gamma-hydroxybutyric acid and GABA on sleep.

46. Pyruvate carboxylase deficiency: clinical and biochemical response to anaplerotic diet therapy.

47. Urea cycle defects: management and outcome.

48. Methylmalonic and propionic acidaemias: management and outcome.

49. Severe hypoglycaemia in isolated 3-methylcrotonyl-CoA carboxylase deficiency; a rare, severe clinical presentation.

50. Delta1-pyrroline-5-carboxylate synthase deficiency: neurodegeneration, cataracts and connective tissue manifestations combined with hyperammonaemia and reduced ornithine, citrulline, arginine and proline.