A urinary radioisotope-binding assay to diagnose Grasbeck-Imerslund disease

Journal of Pediatric Gastroenterology and Nutrition

Volumn 26, Issue 1, 1998, Pages 21-25

  Dugué, Benoit ^a,b   Aminoff, Maria ^a,c   Aimone Gastin, Isabelle ^b   Leppänen, Erik ^a,d   Gräsbeck, Ralph ^a   Guéant, Jean Louis ^b  

^a MINERVA FOUNDATION INSTITUTE FOR MEDICAL RESEARCH   (Finland)

^b UNIVERSITÉ DE LORRAINE   (France)

^c UNIVERSITY OF HELSINKI   (Finland)

^d Maria Hospital   (Finland)

Author keywords

Cobalamin; Grasheek Imerslund syndrome; Intrinsic factor receptor; Malabsorption; Vitamin B12

Indexed keywords

COBALAMIN DERIVATIVE;

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CHROMOSOME 10; DIAGNOSTIC ACCURACY; DRUG RECEPTOR BINDING; FAMILIAL DISEASE; FEMALE; GENE LOCUS; HUMAN; ISOELECTRIC POINT; MALABSORPTION; MALE; MEGALOBLASTIC ANEMIA; PRIORITY JOURNAL; PROTEIN DEGRADATION; SYNDROME;

ABSORPTION; ADULT; AGED; ANEMIA, MEGALOBLASTIC; FINLAND; HETEROZYGOTE; HUMANS; MIDDLE AGED; PROTEINURIA; RADIOLIGAND ASSAY; RECEPTORS, CELL SURFACE; VITAMIN B 12; VITAMIN B 12 DEFICIENCY;

EID: 0031973511     PISSN: 02772116     EISSN: None     Source Type: Journal    
DOI: 10.1097/00005176-199801000-00004     Document Type: Article

References (37)

1. McKusick V, ed. Mendelian inheritance in man. 11th ed. Baltimore: John Hopkins University Press, 1994.
2. 12 malabsorption and proteinuria in young people. Acta Med Scand 1960;167:289-96.
3. Imerslund O. Idiopathic chronic megaloblastic anemia in children. Boston, Oslo, London: Oslo University Press, 1959.
4. Imerslund O. Idiopathic chronic megaloblastic anemia in children. Acta Paediatr 1960;119(suppl):1-15.
5. 12 malabsorption. Acta Haemat 1963;30:1-7.
6. 12 displays recessive Mendelian inheritance: Assignment of a locus to chromosome 10 by linkage. Am J Hum Genet 1995;57:824-31.
7. Guéant J-L, Saunier M, Gastin I, et al. Decreased expression of the receptor for cobalamin-intrinsic factor from ileal mucosa and urine in Gräsbeck disease. Gastroenterology 1995;108:1622-8.
8. Safi A, Saunier M, Gastin I, Alidaba Y, Dugué B, Guéant J-L. Intrinsic factor covalently bound to sepharose as affinity medium for the purification of a soluble intrinsic factor-receptor from human urine. J Chromatogr B Biomed Appl 1995;664:253-9.
9. Seetharam B, Levine J, Ramasamy M, Alpers D. Purification, properties, and immunochemical localization of a receptor for intrinsic factor-cobalamin complex in the rat kidney. J Biol Chem 1988;263:4443-9.
10. Seetharam S, Ramanujam KS, Seetharam B. Synthesis and brush border expression of intrinsic factor-cobalamin receptor from rat renal cortex. J Biol Chem 1992;267:7421-7.
11. Ramanujam KS, Seetharam S, Ramasamy M, Seetharam B. Renal brush border membrane bound intrinsic factor. Biochim Biophys Acta 1990;1030:157-64.
12. Verroust P, Christensen E, Hammond T. Flux vésiculaires dans les cellules épithéliales: Importance physiopathologique de deux récepteurs multiligands. Bull Acad Natl Med 1996;180:1187-98.
13. Le Panse S, Ayani E, Nielsen S, Ronco P, Verroust P, Christensen E. Internalization and recycling of glycoprotein 280 in epithelial cells of yolk sac. Eur J Cell Biol 1997;72:257-67.
14. 12-Proteins. Innsbruck, Austria, September 2-6, 1996.
15. Guéant J-L, Schohn H, Brulé H, Saunier M, Gräsbeck R, Nicolas J-P. Binding assay and physicochemical characteristics of solubilized intrinsic factor receptor in ileal mucosa homogenates using phenyl-Sepharose to separate the saturated receptor from the free intrinsic factor. Biochim Biophys Acta 1991:1073:614-8.
16. 12 malabsorption. Acta Haemat 1963;30:340-3.
17. 12. Scand J Haemat 1973;11:27-34.
18. 12 malabsorption (Imerslund-Gräsbeck syndrome) in a pool of Turkish patients. Pediatr Hematol Oncol 1995;12:19-28.
19. Broch H, Imerslund O, Monn E, Hovig T, Seip M. Imerslund-Gräsbeck anemia. A long-term follow-up study. Acta Paediatr Scand 1984;73:248-53.
20. 12 avec protéinurie. Europa Medica 1967;3:3-12.
21. 12. Prog Food Nutr Sci 1976;2:193-231.
22. Russo CL, Hyman PE, Oseas RS. Megaloblastic anemia characterized by microsytosis: Imerslund-Gräsbeck syndrome with coexistent alpha-thalassemia. Pediatrics 1988;81:875-6.
23. 12 replacement in the Imerslund-Gräsbeck syndrome. J Neurol 1991;238:349-50.
24. Ben-Ami M, Katzuni E, Koren A. Imerslund syndrome with dolichocephaly. Pediatr Hematol Oncol 1990;7:177-81.
25. 12. J Clin Pathol 1994;47:956-8.
26. Marandiau M, Nouri-Safa M, Vaziri F, Kouchanfar A, Abassi H, Fallah A. Coexistence d'une dysplasie spondylo-épiphysaire tardive et d'une anémie mégaloblastique congénitale avec protéinurie dans la même famille. Pédiatrie 1985;40:49-53.
27. Celep F, Karagüzel A, Aynaci F, Erduran E. A case report of 46, XX, Del(21)(q22) de novo deletion associated with Imerslund-Gräsbeck syndrome. Clin Genet 1996;50:248-50.
28. 12 malabsorption. N Engl J Med 1972;286:1021-5.
29. 12 malabsorption with proteinuria). Gut 1985;26:311-1.
30. 12 in giant Schnauzers. J Am Anim Hosp Assoc 1989;25:533-9.
31. Fyfe JC, Ramanujam KS, Ramasamy K, Patterson DF, Seetharam B. Defective brush-border expression of intrinsic factor-cobalamin receptor in canine inherited intestinal cobalamin malabsorption. J Biol Chem 1991;266:4489-94.
32. Fyfe JC, Giger U, Hall CA, et al. Inherited selective intestinal cobalamin malabsorption and cobalamin deficiency in dogs. Pediatr Res 1991;29:24-31.
33. Grasbeck R. Selective vitamin B12 malabsorption with proteinuria (Gräsbeck-Imerslund disease). Colloque International de Pont-à-Mousson "Biologie Prospective," Symposium satellite "Vitamines et Biofacteurs." Nancy, France, September, 1992. Abstract. 58-9.
34. 12 with protenuria in children. Acta Paediatr Scand 1967;52:238-40.
35. 12. Mod Probl Pediatr 1968;11:50-60.
36. Roberten JA, Gallagher ND. Effect of placental lactogen on the number of intrinsic factor receptors in the pregnant mouse. Gastroenterology 1979;77:511-7.
37. Dugué B, Gräsbeck R. The influence of psychic stress and brain death on the intestinal receptor for the cobalamin-intrinsic factor complex in rats. Stress Med 1993;9:83-6.