370 results on '"Dobbelaere D"'
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2. Hyperinsulinisme par mutation activatrice de la glucokinase diagnostiqué à l’âge adulte : description de 9 cas
3. Transition from pediatric to adult care in adolescents with hereditary metabolic diseases: Specific guidelines from the French network for rare inherited metabolic diseases (G2M)
4. A Calderón multiplicative preconditioner for the electromagnetic Poincaré–Steklov operator of a heterogeneous domain with scattering applications
5. Déficit en LCHAD, en MCAD, en SCAD
6. Étude rétrospective descriptive de 91 patients phénylcétonuriques adultes dépistés en période néonatale au CHU de Lille
7. Evaluation of dietary treatment and amino acid supplementation in organic acidurias and urea‐cycle disorders: On the basis of information from a European multicenter registry
8. Vertebral fractures in Gaucher disease type I: data from the French “Observatoire” on Gaucher disease (FROG)
9. The neurological manifestations of Gaucher disease type 1: the French Observatoire on Gaucher disease (FROG)
10. NTBC treatment in tyrosinaemia type I: Long-term outcome in French patients
11. The response of patients with phenylketonuria and elevated serum phenylalanine to treatment with oral sapropterin dihydrochloride (6R-tetrahydrobiopterin): a phase II, multicentre, open-label, screening study
12. Long-term effects of medical management on growth and weight in individuals with urea cycle disorders
13. Long-term effects of medical management on growth and weight in individuals with urea cycle disorders
14. Long-term effects of medical management on growth and weight in individuals with urea cycle disorders
15. Evaluation of nutritional status and pathophysiology of growth retardation in patients with phenylketonuria
16. A DNA probe for the detection of Dicrocoelium dendriticum in ants of Formica spp. and Lasius spp.
17. Reduced Nuclear Translocation of Nuclear Factor (NF)-κB p65 in the Footpad Epidermis of Dogs Infected with Distemper Virus
18. Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disordersA successful strategy for clinical research of rare diseases
19. The response of patients with phenylketonuria and elevated serum phenylalanine to treatment with oral sapropterin dihydrochloride (6 R-tetrahydrobiopterin): a phase II, multicentre, open-label, screening study
20. Congenital disorder of glycosylation Ib (CDG-Ib) without gastrointestinal symptoms
21. Production of interferon byTheileria annulata-andT. parva-infected bovine lymphoid cell lines
22. Effect of buparvaquone on the expression of interleukin 2 receptors inTheileria annulata-infected cells
23. A new case of 2-methylacetoacetyl-CoA thiolase deficiency?
24. Neonatal severe intractable diarrhoea as the presenting manifestation of an unclassified congenital disorder of glycosylation (CDG-x)
25. Neurological outcome of a patient with Gaucher disease type III treated by enzymatic replacement therapy
26. Decreased plasma l-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth retardation: Options for treatment
27. Acute Hydrocephalus Revealing Infantile Onset of Pompe Disease
28. Antagonistic effects of IL-4 and interferon-gamma (IFN-γ) on inducible nitric oxide synthase expression in bovine macrophages exposed to Gram-positive bacteria
29. Preliminary Studies on East Coast Fever in the Coast Province of Kenya
30. Propranolol et lactatémie durant un choc hypovolémique non septique : à propos d’une observation
31. Position statement on the role of healthcare professionals, patient organizations and industry in European Reference Networks
32. Position statement on the role of healthcare professionals, patient organizations and industry in European Reference Networks
33. Position statement on the role of healthcare professionals, patient organizations and industry in European Reference Networks
34. Incorporation of Radio-Labelled Nucleic Acid Precursors by Theileria parva During Sporogony
35. Kidney transplantation in patients with Fabry disease
36. Impact of miglustat on evolution of atypical presentation of late-infantile-onset Niemann–Pick disease type C with early cognitive impairment, behavioral dysfunction, epilepsy, ophthalmoplegia, and cerebellar involvement: a case report
37. Mutation spectrum in the French cohort of galactosemic patients and structural simulation of 27 novel missense variations
38. Modulation of NF-kappaB activation in Theileria annulata-infected cloned cell lines is associated with detection of parasite-dependent IKK signalosomes and disruption of the actin cytoskeleton
39. Constitutive IL-2 mRNA expression in lymphocytes, infected with the intracellular parasite Theileria parva
40. The Akt/PKB pathway is constitutively activated in Theileria-transformed leucocytes, but does not directly control constitutive NF-kappaB activation
41. Theileria parva: taking control of host cell proliferation and survival mechanisms
42. N-acetylcysteine blocks apoptosis induced by N-alpha-tosyl-L-phenylalanine chloromethyl ketone in transformed T-cells
43. Transformation of leukocytes by Theileria parva and T. annulata
44. The intracellular parasite Theileria parva protects infected T cells from apoptosis
45. Parasite-mediated nuclear factor kappaB regulation in lymphoproliferation caused by Theileria parva infection
46. Die Klonierung einer Protease-Genfamilie von Fasciola hepatica mit Hilfe der Polymerase-Kettenreaktion (PCR)
47. Déficit en acyl-CoA-déshydrogénase des acides gras à chaîne moyenne (MCAD) : consensus français pour le dépistage, le diagnostic, et la prise en charge
48. Comprehensive cDNA study and quantitative analysis of mutant HADHA and HADHB transcripts in a French cohort of 52 patients with mitochondrial trifunctional protein deficiency
49. P123 - La mutation E1507K du gène ABCC8 (SUR1) est associée à une variabilité des phénotypes allant de l’hypoglycémie néonatale au diabète chez l’adulte
50. Vertebral fractures in Gaucher disease type I: data from the French “Observatoire” on Gaucher disease (FROG)
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