32 results on '"Rabier D"'
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2. Renal transplantation in 4 patients with methylmalonic aciduria: A cell therapy for metabolic disease
3. Comprehensive cDNA study and quantitative analysis of mutant HADHA and HADHB transcripts in a French cohort of 52 patients with mitochondrial trifunctional protein deficiency
4. Hydroxyproline
5. Secondary creatine deficiency in ornithine delta-aminotransferase deficiency
6. Liver hepatoblastoma and multiple OXPHOS deficiency in the follow-up of a patient with methylmalonic aciduria
7. P014 Argininosuccinate synthétase dans les mitochondries du tubule proximal de rein de souris
8. Maladies héréditaires du métabolisme vitaminosensibles chez l'adulte. Implications diagnostiques et thérapeutiques
9. Urgences métaboliques néonatales
10. Trends in serum citrulline and acute rejection among recipients of small bowel transplants
11. Manifestations hématologiques dans les erreurs innées du métabolisme
12. Serum citrulline as a marker of acute cellular rejection for intestinal transplantation
13. Genotype/phenotype correlation in carnitine palmitoyl transferase II deficiency: lessons from a compound heterozygous patient
14. Variation des acides aminés en fonction de l'âge chez des sujets trisomiques 21
15. Malaises, morts subites et comas révélateurs des déficits de l'oxydation des acides gras
16. Tolerance to starvation in children on long-term total parenteral nutrition
17. Urines foncees et alcaptonurie
18. Transplantation intrasplénique d'hépatocytes daas le déficit en ornithine transcarbamylase
19. A scheme for the interpretation of primary and secondary disturbances of plasma and urinary amino acid profiles. A possible way to an expert system
20. Clinical outcome of long-term management of patients with vitamin B12-unresponsive methylmalonic acidemia
21. Recurrent episodes of bizarre behavior in a boy with ornithine transcarbamylase deficiency: Diagnostic failure of protein loading and allopurinol challenge tests
22. Foie et métabolisme azote interrelations avec l'équilibre acidobasique
23. Human trifunctional protein deficiency: A new disorder of mitochondrial fatty acid β-oridation
24. Encéphalopathie avec acidose lactique révélant une acidurie méthylmalonique et une hypovitaminémie b12
25. Early amniocentesis and amniotic fluid organic acid levels in the prenatal diagnosis of organic acidemias
26. Inventaire des différentes activités peptidasiques intracellulaires de Streptococcus thermophilus
27. Propionate and succinate effects on acetyl glutamate biosynthesis by rat liver mitochondria
28. Role of N-acetylglutamate and acetyl-CoA in the inhibition of ureagenesis by isovaleric acid in isolated rat hepatocytes
29. Ornithine carbamoyltransferase deficiency. A new variant with subnormal enzyme activity
30. Induction of urea cycle enzymes by glucagon and dexamethasone in monolayer cultures of adult rat hepatocytes.
31. ELEVENTH WEEK AMNIOCENTESIS FOR PRENATAL DIAGNOSIS OF METABOLIC DISEASES
32. VALPROATE-INDUCED INHIBITION OF UREA SYNTHESIS
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