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2. Homocystinuria and megaloblastic anemia responsive to vitamin B12 therapy. An inborn error of metabolism due to a defect in cobalamin metabolism. Schuh S, Rosenblatt DS, Cooper BA, Schroeder ML, Bishop AJ, Seargeant LE, Haworth JC. N Engl J Med; 1984 Mar 15; 310(11):686-90. PubMed ID: 6700644 [Abstract] [Full Text] [Related]
3. Functional methionine synthase deficiency (cblE and cblG): clinical and biochemical heterogeneity. Watkins D, Rosenblatt DS. Am J Med Genet; 1989 Nov 15; 34(3):427-34. PubMed ID: 2688421 [Abstract] [Full Text] [Related]
9. A cobalamin metabolic defect with homocystinuria, methylmalonic aciduria and macrocytic anemia. Mamlok RJ, Isenberg JN, Rassin DK, Norcross K, Tallan HH. Neuropediatrics; 1986 May 15; 17(2):94-9. PubMed ID: 2873525 [Abstract] [Full Text] [Related]
10. Methionine synthase deficiency without megaloblastic anaemia. Kvittingen EA, Spangen S, Lindemans J, Fowler B. Eur J Pediatr; 1997 Dec 15; 156(12):925-30. PubMed ID: 9453374 [Abstract] [Full Text] [Related]
11. Genetic heterogeneity among patients with methylcobalamin deficiency. Definition of two complementation groups, cblE and cblG. Watkins D, Rosenblatt DS. J Clin Invest; 1988 Jun 15; 81(6):1690-4. PubMed ID: 3384945 [Abstract] [Full Text] [Related]
12. New disorder of vitamin B12 metabolism (cobalamin F) presenting as methylmalonic aciduria. Rosenblatt DS, Laframboise R, Pichette J, Langevin P, Cooper BA, Costa T. Pediatrics; 1986 Jul 15; 78(1):51-4. PubMed ID: 3725502 [Abstract] [Full Text] [Related]
13. Cobalamin E (cblE) disease: a severe neurological disorder with megaloblastic anaemia, homocystinuria and low serum methionine. Steen C, Rosenblatt DS, Scheying H, Braeuer HC, Kohlschütter A. J Inherit Metab Dis; 1997 Sep 15; 20(5):705-6. PubMed ID: 9323567 [No Abstract] [Full Text] [Related]
14. Vitamin B12-responsive megaloblastic anemia, homocystinuria, and transient methylmalonic aciduria in cb1E disease. Tuchman M, Kelly P, Watkins D, Rosenblatt DS. J Pediatr; 1988 Dec 15; 113(6):1052-6. PubMed ID: 3193313 [No Abstract] [Full Text] [Related]
15. The nature of the defect in cobalamin G mutation. Hall CA, Lindenbaum RH, Arenson E, Begley JA, Chu RC. Clin Invest Med; 1989 Aug 15; 12(4):262-9. PubMed ID: 2535439 [Abstract] [Full Text] [Related]
16. Methionine auxotrophy in inborn errors of cobalamin metabolism. Garovic-Kocic V, Rosenblatt DS. Clin Invest Med; 1992 Aug 15; 15(4):395-400. PubMed ID: 1516297 [Abstract] [Full Text] [Related]
17. Haemolytic uraemic syndrome and pulmonary hypertension in a patient with methionine synthase deficiency. Labrune P, Zittoun J, Duvaltier I, Trioche P, Marquet J, Niaudet P, Odièvre M. Eur J Pediatr; 1999 Sep 15; 158(9):734-9. PubMed ID: 10485306 [Abstract] [Full Text] [Related]
18. Functionally null mutations in patients with the cblG-variant form of methionine synthase deficiency. Wilson A, Leclerc D, Saberi F, Campeau E, Hwang HY, Shane B, Phillips JA, Rosenblatt DS, Gravel RA. Am J Hum Genet; 1998 Aug 15; 63(2):409-14. PubMed ID: 9683607 [Abstract] [Full Text] [Related]
19. The cblD defect causes either isolated or combined deficiency of methylcobalamin and adenosylcobalamin synthesis. Suormala T, Baumgartner MR, Coelho D, Zavadakova P, Kozich V, Koch HG, Berghaüser M, Wraith JE, Burlina A, Sewell A, Herwig J, Fowler B. J Biol Chem; 2004 Oct 08; 279(41):42742-9. PubMed ID: 15292234 [Abstract] [Full Text] [Related]
20. cblE type of homocystinuria due to methionine synthase reductase deficiency: functional correction by minigene expression. Zavadáková P, Fowler B, Suormala T, Novotna Z, Mueller P, Hennermann JB, Zeman J, Vilaseca MA, Vilarinho L, Gutsche S, Wilichowski E, Horneff G, Kozich V. Hum Mutat; 2005 Mar 08; 25(3):239-47. PubMed ID: 15714522 [Abstract] [Full Text] [Related] Page: [Next] [New Search]