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7. An infant with an extremely rare cobalamin disorder: Methionine synthase deficiency and importance of early diagnosis and treatment. Kasapkara ÇS; Yılmaz-Keskin E; Özbay-Hoşnut F; Akçaboy M; Polat E; Olgaç A; Zorlu P Turk J Pediatr; 2019; 61(2):282-285. PubMed ID: 31951343 [TBL] [Abstract][Full Text] [Related]
9. Functional methionine synthase deficiency due to cblG disorder: a report of two patients and a review. Harding CO; Arnold G; Barness LA; Wolff JA; Rosenblatt DS Am J Med Genet; 1997 Sep; 71(4):384-90. PubMed ID: 9286442 [TBL] [Abstract][Full Text] [Related]
10. Molecular basis for methionine synthase reductase deficiency in patients belonging to the cblE complementation group of disorders in folate/cobalamin metabolism. Wilson A; Leclerc D; Rosenblatt DS; Gravel RA Hum Mol Genet; 1999 Oct; 8(11):2009-16. PubMed ID: 10484769 [TBL] [Abstract][Full Text] [Related]
11. Remethylation defects: guidelines for clinical diagnosis and treatment. Ogier de Baulny H; Gérard M; Saudubray JM; Zittoun J Eur J Pediatr; 1998 Apr; 157 Suppl 2():S77-83. PubMed ID: 9587031 [TBL] [Abstract][Full Text] [Related]
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13. Human methionine synthase: cDNA cloning and identification of mutations in patients of the cblG complementation group of folate/cobalamin disorders. Leclerc D; Campeau E; Goyette P; Adjalla CE; Christensen B; Ross M; Eydoux P; Rosenblatt DS; Rozen R; Gravel RA Hum Mol Genet; 1996 Dec; 5(12):1867-74. PubMed ID: 8968737 [TBL] [Abstract][Full Text] [Related]
14. 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; 63(2):409-14. PubMed ID: 9683607 [TBL] [Abstract][Full Text] [Related]
15. Heterogeneity in cblG: differential retention of cobalamin on methionine synthase. Sillaots SL; Hall CA; Hurteloup V; Rosenblatt DS Biochem Med Metab Biol; 1992 Jun; 47(3):242-9. PubMed ID: 1627355 [TBL] [Abstract][Full Text] [Related]