568 results on '"Rabier, D."'
Search Results
2. Kinetic Analyses Guide the Therapeutic Decision in a Novel Form of Moderate Aromatic Acid Decarboxylase Deficiency
3. Renal transplantation in 4 patients with methylmalonic aciduria: A cell therapy for metabolic disease
4. Comprehensive cDNA study and quantitative analysis of mutant HADHA and HADHB transcripts in a French cohort of 52 patients with mitochondrial trifunctional protein deficiency
5. Long-term outcome in methylmalonic aciduria: A series of 30 French patients
6. Secondary creatine deficiency in ornithine delta-aminotransferase deficiency
7. Multiple OXPHOS deficiency in the liver of a patient with CblA methylmalonic aciduria sensitive to vitamin B12
8. The use of MapPop1.0 for choosing a QTL mapping sample from an advanced backcross population
9. Methylmalonic and propionic acidurias: Management without or with a few supplements of specific amino acid mixture
10. Methylmalonic and propionic acidaemias: Management and outcome
11. Urea cycle defects: Management and outcome
12. Plasma Lysine Concentration and Availability of 2-Ketoglutarate in Liver Mitochondria
13. Kinetic Analyses Guide the Therapeutic Decision in a Novel Form of Moderate Aromatic Acid Decarboxylase Deficiency
14. Mevalonate kinase deficiency (MKD): long-term follow-up of clinical and biological features in 40 patients
15. Urgencias metabólicas neonatales
16. Genetic hypoglycaemia in infancy and childhood: Pathophysiology and diagnosis
17. Dietary therapy in two patients with a mild form of sulphite oxidase deficiency. Evidence for clinical and biological improvement
18. Liver transplantation in propionic acidaemia
19. Liver transplantation in urea cycle disorders
20. D-2-Hydroxyglutaric aciduria: Further clinical delineation
21. Recognition and management of fatty acid oxidation defects: A series of 107 patients
22. Defects in activation and transport of fatty acids
23. The neurogenic weakness, ataxia and retinitis pigmentosa (NARP) syndrome mtDNA mutation (T8993G) triggers muscle ATPase deficiency and hypocitrullinaemia
24. Gestational age-related reference values for amniotic fluid organic acids
25. Persistent hypocitrullinaemia as a marker for mtDNA NARP T 8993 G mutation?
26. A SHORT-TERM ANAPLEROTIC THERAPEUTIC INTERVENTION IMPROVES PERIPHERAL ENERGY METABOLISM IN PATIENTS WITH HUNTINGTON DISEASE: D08
27. Continuous venovenous haemodiafiltration in the acute phase of neonatal maple syrup urine disease
28. Differing clinical presentation of succinic semialdehyde dehydrogenase deficiency in adolescent siblings from Lifu Island, New Caledonia
29. Metabolic intermediates in lactic acidosis: compounds, samples and interpretation
30. Clinical outcome and long-term management of 17 patients with propionic acidaemia
31. Severe hypoglycaemia in isolated 3-methylcrotonyl-CoA carboxylase deficiency; a rare, severe clinical presentation
32. Metabolism of citrulline in man
33. Liver transplantation in two cases of propionic acidaemia
34. Do criteria exist from urinary organic acids to distinguish β-oxidation defects?
35. A new neonatal case ofN-acetylglutamate synthase deficiency treated by carbamylglutamate
36. Abnormal α-aminoadipic acid excretion in a newborn with a defect in platelet aggregation and antenatal cerebral haemorrhage
37. Prenatal diagnosis of some metabolic diseases using early amniotic fluid samples: Report of a 15 years, experience
38. Enzymatic and immunological demonstration of normal and defective succinic semialdehyde dehydrogenase activity in fetal brain, liver and kidney
39. Trends in serum citrulline and acute rejection among recipients of small bowel transplants
40. Pediatrics
41. Clinical aspects of mitochondrial disorders
42. Arginine remains an essential amino acid after liver transplantation in urea cycle enzyme deficiencies
43. Therapeutic use of carbamylglutamate in the case of carbamoyl-phosphate synthetase deficiency
44. Manifestations hématologiques dans les erreurs innées du métabolisme
45. Serum citrulline as a marker of acute cellular rejection for intestinal transplantation
46. Arginase deficiency in two brothers
47. Neutrophil-derived long-lived oxidants in cystic fibrosis sputum.
48. Mutation of the Fumarase Gene in Two Siblings With Progressive Encephalopathy and Fumarase Deficiency
49. Acute Glucagon Treatment in Rats Fed Various Protein Diets Effect on N-Acetyl Glutamate Concentration
50. A Mechanism for Valproate-Induced Hyperammonemia
Catalog
Books, media, physical & digital resources
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.