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2. Advances in the understanding of cobalamin assimilation and metabolism. Quadros EV Br J Haematol; 2010 Jan; 148(2):195-204. PubMed ID: 19832808 [TBL] [Abstract][Full Text] [Related]
3. Inherited defects of vitamin B12 metabolism. Cooper BA; Rosenblatt DS Annu Rev Nutr; 1987; 7():291-320. PubMed ID: 3300737 [No Abstract] [Full Text] [Related]
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6. [Anemias from dietary vitamin B12 deficiency and inherited disorders of vitamin B12 metabolism in pediatric patients (author's transl)]. Zittoun J Ann Pediatr (Paris); 1982 Apr; 29(4):252-6. PubMed ID: 7092069 [No Abstract] [Full Text] [Related]
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8. Inherited defects of B12 metabolism. Mahoney MJ; Rosenberg LE Am J Med; 1970 May; 48(5):584-93. PubMed ID: 4912932 [No Abstract] [Full Text] [Related]
9. Added value of next generation gene panel analysis for patients with elevated methylmalonic acid and no clinical diagnosis following functional studies of vitamin B12 metabolism. Pupavac M; Tian X; Chu J; Wang G; Feng Y; Chen S; Fenter R; Zhang VW; Wang J; Watkins D; Wong LJ; Rosenblatt DS Mol Genet Metab; 2016 Mar; 117(3):363-8. PubMed ID: 26827111 [TBL] [Abstract][Full Text] [Related]
10. Cobalamin E disease in an infant. Nutr Rev; 1986 Jul; 44(7):239-41. PubMed ID: 3574780 [No Abstract] [Full Text] [Related]
11. Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism. Rutsch F; Gailus S; Miousse IR; Suormala T; Sagné C; Toliat MR; Nürnberg G; Wittkampf T; Buers I; Sharifi A; Stucki M; Becker C; Baumgartner M; Robenek H; Marquardt T; Höhne W; Gasnier B; Rosenblatt DS; Fowler B; Nürnberg P Nat Genet; 2009 Feb; 41(2):234-9. PubMed ID: 19136951 [TBL] [Abstract][Full Text] [Related]
12. Inborn Error of Cobalamin Metabolism Associated with the Intracellular Accumulation of Transcobalamin-Bound Cobalamin and Mutations in ZNF143, Which Codes for a Transcriptional Activator. Pupavac M; Watkins D; Petrella F; Fahiminiya S; Janer A; Cheung W; Gingras AC; Pastinen T; Muenzer J; Majewski J; Shoubridge EA; Rosenblatt DS Hum Mutat; 2016 Sep; 37(9):976-82. PubMed ID: 27349184 [TBL] [Abstract][Full Text] [Related]
13. [Hereditary deficiencies of B 12 coenzymes]. Fontaine G Therapeutique; 1971 Dec; 47(10):879-84. PubMed ID: 5145554 [No Abstract] [Full Text] [Related]
15. Inborn errors of cobalamin absorption and metabolism. Watkins D; Rosenblatt DS Am J Med Genet C Semin Med Genet; 2011 Feb; 157C(1):33-44. PubMed ID: 21312325 [TBL] [Abstract][Full Text] [Related]
16. Genetic defects of cobalamin metabolism. Rennert OM Ann Clin Lab Sci; 1980; 10(4):356-60. PubMed ID: 7447389 [TBL] [Abstract][Full Text] [Related]
17. Maternal one-carbon metabolism, MTHFR and TCN2 genotypes and neural tube defects in India. Godbole K; Gayathri P; Ghule S; Sasirekha BV; Kanitkar-Damle A; Memane N; Suresh S; Sheth J; Chandak GR; Yajnik CS Birth Defects Res A Clin Mol Teratol; 2011 Sep; 91(9):848-56. PubMed ID: 21770021 [TBL] [Abstract][Full Text] [Related]
18. Positive newborn screen for methylmalonic aciduria identifies the first mutation in TCblR/CD320, the gene for cellular uptake of transcobalamin-bound vitamin B(12). Quadros EV; Lai SC; Nakayama Y; Sequeira JM; Hannibal L; Wang S; Jacobsen DW; Fedosov S; Wright E; Gallagher RC; Anastasio N; Watkins D; Rosenblatt DS Hum Mutat; 2010 Aug; 31(8):924-9. PubMed ID: 20524213 [TBL] [Abstract][Full Text] [Related]
19. Defect in vitamin B12 release from lysosomes: newly described inborn error of vitamin B12 metabolism. Rosenblatt DS; Hosack A; Matiaszuk NV; Cooper BA; Laframboise R Science; 1985 Jun; 228(4705):1319-21. PubMed ID: 4001945 [TBL] [Abstract][Full Text] [Related]
20. Inherited disorders of vitamin B12 utilization. Rosenblatt DS; Cooper BA Bioessays; 1990 Jul; 12(7):331-4. PubMed ID: 2203337 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]