520 results on '"Monnens, Leo"'
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2. Hyporeninemic hypoaldosteronism in RMND1-related mitochondrial disease
3. Cystinosis
4. Hyporeninemic hypoaldosteronism in RMND1-related mitochondrial disease
5. Cystinosis
6. Congenital eyelid ptosis, decreased glomerular filtration, and orthostatic hypotension: Answers
7. The Paradox of Hyperdopaminuria in Aromatic l-Amino Acid Deficiency Explained
8. Evaluation of Hypomagnesemia: Lessons From Disorders of Tubular Transport
9. Urinary excretion of polyols and sugars in children with chronic kidney disease
10. The cause of eyelid ptosis, orthostatic hypotension and exercise intolerance
11. Human and animal fertility studies in cystinosis reveal signs of obstructive azoospermia, an altered blood‐testis barrier and a subtherapeutic effect of cysteamine in testis
12. Congenital eyelid ptosis, decreased glomerular filtration, and orthostatic hypotension: Questions
13. Blood, urine and cerebrospinal fluid analysis in TH and AADC deficiency and the effect of treatment
14. Clinical presentation and long-term follow-up of dopamine beta hydroxylase deficiency
15. Urinary Protein Excretion Pattern and Renal Expression of Megalin and Cubilin in Nephropathic Cystinosis
16. Novel conditionally immortalized human proximal tubule cell line expressing functional influx and efflux transporters
17. Switch in FGFR3 and -4 Expression Profile During Human Renal Development May Account for Transient Hypercalcemia in Patients With Sotos Syndrome due to 5q35 Microdeletions
18. Interactions of Shiga-like toxin with human peripheral blood monocytes
19. A missense mutation in factor I (IF) predisposes to atypical haemolytic uraemic syndrome
20. Fungal peritonitis in children on peritoneal dialysis
21. Shiga toxin-1 affects nitric oxide production by human glomerular endothelial and mesangial cells
22. Teaching molecular genetics: Chapter 1—Background principles and methods of molecular biology
23. Strict cysteamine dose regimen is required to prevent nocturnal cystine accumulation in cystinosis
24. IgG and complement receptor expression in children treated by peritoneal dialysis
25. Genetic disorders of transporters/channels in the inner ear and their relation to the kidney
26. Elevated levels of vascular endothelial growth factor in serum of patients with D+ HUS
27. Dent's Disease
28. Anticardiolipin antibodies in D+ hemolytic uremic syndrome
29. A novel mutation of the epithelial Na+ channel causes type 1 pseudohypoaldosteronism
30. The Paradox of Hyperdopaminuria in Aromatic l-Amino Acid Deficiency Explained
31. Clinical presentation and long‐term follow‐up of dopamine beta hydroxylase deficiency
32. Still a vigilant attitude required to prevent hypomagnesemia
33. Involvement of claudin 3 and claudin 4 in idiopathic infantile hypercalcaemia: a novel hypothesis?
34. Nephrogenic syndrome of inappropriate antidiuresis
35. Hereditary isolate renal magnesium loss maps to chromosome 11q23
36. Bigenic heterozygosity and the development of steroid-resistant focal segmental glomerulosclerosis
37. Shiga-toxin-induced firm adhesion of human leukocytes to endothelium is in part mediated by heparan sulfate
38. Evaluation of the proximal tubular function in hereditary renal Fanconi syndrome
39. Proteomic profiling and identification in peritoneal fluid of children treated by peritoneal dialysis
40. Linkage of Gitelman syndrome to the thiazide-sensitive sodium-chloride cotransporter gene with identification of mutations in Dutch families
41. Verocytotoxin-producingEscherichia coli infection in hemolytic uremic syndrome in part of Western Europe
42. Renal failure in the surviving monochorionic twin after death of the co-twin in utero
43. Intracellular amino acid concentrations in children with chronic renal insufficiency
44. Adult and paediatric patients with minimal change nephrotic syndrome show no major alterations in glomerular expression of sulphated heparan sulphate domains
45. Lack of specific binding of Shiga-like toxin (verocytotoxin) and non-specific interaction of Shiga-like toxin 2 antibody with human polymorphonuclear leucocytes
46. Clinical phenotype of nephrogenic diabetes insipidus in females heterozygous for a vasopressin type 2 receptor mutation
47. Recent advances in understanding the clinical and genetic heterogeneity of Dent's disease
48. Development of Fanconi syndrome during infancy in a patient with cystinosis
49. Decrease of thrombomodulin contributes to the procoagulant state of endothelium in hemolytic uremic syndrome
50. Altered status of glutathione and its metabolites in cystinotic cells
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