126 results on '"Maire, Irène"'
Search Results
2. Diagnostic prénatal (DPN) des maladies héréditaires du métabolisme (MHM)
3. Incidence and natural history of mucopolysaccharidosis type III in France and comparison with United Kingdom and Greece
4. Low β-glucuronidase enzyme activity and mutations in the human β-glucuronidase gene in mild mucopolysaccharidosis type VII, pseudodeficiency and a heterozygote
5. Mucopolysaccharidosis type II: an update on mutation spectrum
6. SIMPLE mutation analysis in dominant demyelinating Charcot-Marie-Tooth disease: three novel mutations
7. Long-term follow-up of metachronous marrow-kidney transplantation in severe type II sialidosis: what does success mean?
8. MPS II in females: molecular basis of two different cases
9. Identification of iduronate sulfatase gene alterations in 70 unrelated Hunter patients
10. The role of current biomarkers in the management of lysosomal storage disorders
11. Erythrocyte ghost (Na+ + K+) ATPase activity in mice with hereditary muscular dystrophy (strain C57 BL 6 J/dy)
12. Metachromatic Leukodystrophy Clinical, Biological and Therapeutic Aspects
13. Safe, Efficient, and Reproducible Gene Therapy of the Brain in the Dog Models of Sanfilippo and Hurler Syndromes
14. Incidence and natural history of mucopolysaccharidosis type III in France and comparison with United Kingdom and Greece
15. La leucodystrophie métachromatique Aspects clinique, biologique et thérapeutique
16. LIVER CIRCADIAN CLOCK, A PHARMACOLOGIC TARGET OF CYCLIN-DEPENDENT KINASE INHIBITOR SELICICLIB
17. Early Neurodegeneration Progresses Independently of Microglial Activation by Heparan Sulfate in the Brain of Mucopolysaccharidosis IIIB Mice
18. Abnormal expression of truncated CRMP-1 protein in the brain cortex of MPSIIIB mice
19. Biomarkers for Pompe Disease
20. 3 Heparan sulfate oligosaccharides excreted in MPSIIIb patient urines trigger mouse innate immune response
21. Maladie de Fabry
22. The putative glucose 6-phosphate translocase gene is mutated in essentially all cases of glycogen storage disease type I non-a.
23. Mutations in TMEM76 Cause Mucopolysaccharidosis IIIC (Sanfilippo C Syndrome)
24. Gene therapy of the brain in the dog model of Hurler's syndrome
25. Type 2 Gaucher disease: 15 new cases and review of the literature
26. Dosage du globotriaosylcéramide dans l’urine
27. Improved Behavior and Neuropathology in the Mouse Model of Sanfilippo Type IIIB Disease after Adeno-Associated Virus-Mediated Gene Transfer in the Striatum
28. Une maladie génétique rare : le déficit multiple en sulfatases
29. Orphan drugs and orphan diseases
30. The 2.1-, 5.4- and 5.7-kb transcripts of the IDS gene are generated by different polyadenylation signals
31. The putative glucose 6-phosphate translocase gene is mutated in essentially all cases of glycogen storage disease type I non-a
32. Correlation of alkaline phosphatase (ALP) determination and analysis of the tissue non‐specific ALP gene in prenatal diagnosis of severe hypophosphatasia
33. A Gene on Chromosome 11q23 Coding for a Putative Glucose- 6-Phosphate Translocase Is Mutated in Glycogen-Storage Disease Types Ib and Ic
34. Diagnostic biologique et moléculaire des maladies de surcharge lysosomale
35. COS cell expression studies of P86L, P86R, P480L and P480Q Hunter's disease-causing mutations
36. Mutation analysis in 11 French patients with Fabry disease
37. McArdle's disease in childhood: Report of a new case
38. Characterization of iduronate sulphatase mutants affecting N-glycosylation sites and the cysteine-84 residue
39. Mutations in the testis/liver isoform of the phosphorylase kinase γ subunit (PHKG2) cause autosomal liver glycogenosis in the gsd rat and in humans
40. Amniotic fluid for screening of lysosomal storage diseases presenting in utero (mainly as non-immune hydrops fetalis)
41. Types I and III Gaucher Disease in Poland: Incidence of the Most Common Mutations and Phenotypic Manifestations
42. IDS gene-pseudogene exchange responsible for an intragenic deletion in a hunter patient
43. Usefulness of Reference Materials in Calibration of Enzyme Activities
44. Mutation Hotspots in the PHKA2 G Gene in X-Linked Liver Glycogenosis Due to Phosphorylase Kinase Deficienc with Atypical Activity in Blood Cells (XLG2).
45. Erythrocyte ghost (Na+ + K+) ATPase activity in mice with hereditary muscular dystrophy (strain C57 BL 6 J/dy)
46. Evidence for the presence of a very high concentration of arylsulfatase A in the pig thyroid: Identification of arylsulfatase A subunits as the two major glycoproteins in purified thyroid lysosomes
47. Glycogen storage disease and inflammatory bowel disease
48. X-Linked Recessive Ichthyosis
49. Biochemical diagnosis of hepatic glycogen storage diseases: 20 years French experience
50. Problems encountered in prenatal diagnosis of metabolic diseases using cultured amniotic fluid cells
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