219 results on '"Bruneel, Arnaud"'
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2. Efficacy of oral manganese and D-galactose therapy in a patient bearing a novel TMEM165 variant
3. Association between acute complications in PMM2-CDG patients and haemostasis anomalies: Data from a multicentric study and suggestions for acute management
4. Lab-in-droplet: From glycan sample treatment toward diagnostic screening of congenital disorders of glycosylation
5. Vitamin C improves microvascular reactivity and peripheral tissue perfusion in septic shock patients
6. High sensitivity capillary electrophoresis with fluorescent detection for glycan mapping
7. SLC37A4-CDG: New biochemical insights for an emerging congenital disorder of glycosylation with major coagulopathy
8. MAN1B1-CDG: Three new individuals and associated biochemical profiles
9. Normal transferrin patterns in congenital disorders of glycosylation with Golgi homeostasis disruption: apolipoprotein C-III at the rescue!
10. A mutation in SLC37A4 causes a dominantly inherited congenital disorder of glycosylation characterized by liver dysfunction
11. CDG biochemical screening: Where do we stand?
12. Elevated thrombin generation in patients with congenital disorder of glycosylation and combined coagulation factor deficiencies
13. Long-term follow-up in PMM2-CDG: are we ready to start treatment trials?
14. CCDC115-CDG: A new rare and misleading inherited cause of liver disease
15. A capillary zone electrophoresis method for detection of Apolipoprotein C-III glycoforms and other related artifactually modified species
16. Efficacy of oral manganese and D-galactose therapy in a patient bearing a novel TMEM165 variant
17. MAGT1 deficiency in XMEN disease is associated with severe platelet dysfunction and impaired platelet glycoprotein N-glycosylation
18. “Hide and seek”: Misleading transferrin variants in PMM2‐CDG complicate diagnostics
19. Two-dimensional electrophoresis highlights haptoglobin beta chain as an additional biomarker of congenital disorders of glycosylation
20. "Hide and seek": Misleading transferrin variants in PMM2‐CDG complicate diagnostics.
21. Chapter One - Biochemical diagnosis of congenital disorders of glycosylation
22. Reversible atransferrinemia in a patient with chronic enteropathy: is transferrin mandatory for iron transport?
23. Distinct regulation of iron homeostasis in rat heart and liver in response to systemic iron deficiency
24. High CDT without clinical context: Beware of the variant
25. Clinically relevant urine creatinine underestimation in the low concentration range on the Siemens Dimension Vista®
26. Reversible atransferrinemia in a patient with chronic enteropathy
27. Reactive Oxygen Species, AMP-activated Protein Kinase, and the Transcription Cofactor p300 Regulate α-Tubulin Acetyltransferase-1 (αTAT-1/MEC-17)-dependent Microtubule Hyperacetylation during Cell Stress
28. Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature
29. Increased carbohydrate deficient transferrin: Whisky or candy?
30. N-Glycosylation Deficiency Reduces the Activation of Protein C and Disrupts Endothelial Barrier Integrity
31. Biallelic variants in SLC35B2 cause a novel chondrodysplasia with hypomyelinating leukodystrophy
32. Additional file 3 of Vitamin C improves microvascular reactivity and peripheral tissue perfusion in septic shock patients
33. Additional file 4 of Vitamin C improves microvascular reactivity and peripheral tissue perfusion in septic shock patients
34. Additional file 2 of Vitamin C improves microvascular reactivity and peripheral tissue perfusion in septic shock patients
35. Additional file 1 of Vitamin C improves microvascular reactivity and peripheral tissue perfusion in septic shock patients
36. Neuropathie héréditaire associée au gène SORD
37. Red blood cell Thomsen-Friedenreich antigen expression and galectin-3 plasma concentrations in Streptococcus pneumoniae–associated hemolytic uremic syndrome and hemolytic anemia
38. Vitamin C Improves Microvascular Reactivity and Peripheral Tissue Perfusion in Septic Shock Patients
39. Les neuropathies héréditaires associées au gène SORD
40. Inherited Proteoglycan Biosynthesis Defects—Current Laboratory Tools and Bikunin as a Promising Blood Biomarker
41. Capillary zone electrophoresis of transferrin and EDTA samples in congenital disorders of glycosylation screening: CaNOt do, really?
42. Sweet ending: When genetics prevent a dramatic CDG diagnostic mistake
43. SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects
44. PHProteomicDB: A Module for Two-dimensional Gel Electrophoresis Database Creation on Personal Web Sites
45. External Evaluation of the Dimension Vista 1500® Intelligent Lab System
46. Expanding the phenotype of X‐linked SSR4–CDG: Connective tissue implications
47. Long term outcome of MPI‐CDG patients on D‐mannose therapy
48. Serum bikunin isoforms in congenital disorders of glycosylation and linkeropathies
49. Consensus guideline for the diagnosis and management of mannose phosphate isomerase‐congenital disorder of glycosylation
50. Serum bikunin is a biomarker of linkeropathies
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