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Results: 1-20 |
Results: 20

Authors: Watkins, D Rosenblatt, DS
Citation: D. Watkins et Ds. Rosenblatt, Cobalamin and inborn errors of cobalamin absorption and metabolism, ENDOCRINOLO, 11(2), 2001, pp. 98-104

Authors: Powers, JM Rosenblatt, DS Schmidt, RE Cross, AH Black, JT Moser, AB Moser, HW Morgan, DJ
Citation: Jm. Powers et al., Neurological and neuropathologic heterogeneity in two brothers with cobalamin C deficiency, ANN NEUROL, 49(3), 2001, pp. 396-400

Authors: Rosenblatt, DS
Citation: Ds. Rosenblatt, Methylenetetrahydrofolate reductase, CLIN INV M, 24(1), 2001, pp. 56-59

Authors: Mudd, SH Cerone, R Schiaffino, MC Fantasia, AR Minniti, G Caruso, U Lorini, R Watkins, D Matiaszuk, N Rosenblatt, DS Schwahn, B Rozen, R LeGros, L Kotb, M Capdevila, A Luka, Z Finkelstein, JD Tangerman, A Stabler, SP Allen, RH Wagner, C
Citation: Sh. Mudd et al., Glycine N-methyltransferase deficiency: A novel inborn error causing persistent isolated hypermethioninaemia, J INH MET D, 24(4), 2001, pp. 448-464

Authors: Bodamer, OAF Rosenblatt, DS Appel, SH Beaudet, AL
Citation: Oaf. Bodamer et al., Adult-onset combined methylmalonic aciduria and homocystinuria (cblC), NEUROLOGY, 56(8), 2001, pp. 1113-1113

Authors: Rosenblatt, DS
Citation: Ds. Rosenblatt, Inborn errors of folate and cobalamin metabolism, HOMOCYSTEINE IN HEALTH AND DISEASE, 2001, pp. 244-258

Authors: Chango, A Emery-Fillon, N de Courcy, GP Lambert, D Pfister, M Rosenblatt, DS Nicolas, JP
Citation: A. Chango et al., A polymorphism (80G-> A) in the reduced folate carrier gene and its associations with folate status and homocysteinemia, MOL GEN MET, 70(4), 2000, pp. 310-315

Authors: Sibani, S Christensen, B O'Ferrall, E Saadi, I Hiou-Tim, F Rosenblatt, DS Rozen, R
Citation: S. Sibani et al., Characterization of six novel mutations in the methylenetetrahydrofolate reductase (MTHFR) gene in patients with homocystinuria, HUM MUTAT, 15(3), 2000, pp. 280-287

Authors: Rosenblatt, DS
Citation: Ds. Rosenblatt, The evolution of medicine - a geneticist's point of view, CLIN INV M, 23(1), 2000, pp. 59-61

Authors: Ciani, F Donati, MA Tulli, G Poggi, GM Pasquini, E Rosenblatt, DS Zammarchi, E
Citation: F. Ciani et al., Lethal late onset cblB methylmalonic aciduria, CRIT CARE M, 28(6), 2000, pp. 2119-2121

Authors: Watkins, D Matiaszuk, N Rosenblatt, DS
Citation: D. Watkins et al., Complementation studies in the cblA class of inborn error of cobalamin metabolism: evidence for interallelic complementation and for a new complementation class (cblH), J MED GENET, 37(7), 2000, pp. 510-513

Authors: Chango, A Boisson, F Barbe, F Quilliot, D Droesch, S Pfister, M Fillon-Emery, N Lambert, D Fremont, S Rosenblatt, DS Nicolas, JP
Citation: A. Chango et al., The effect of 677C -> T and 1298A -> C mutations on plasma homocysteine and 5,10-methylenetetrahydrofolate reductase activity in healthy subjects, BR J NUTR, 83(6), 2000, pp. 593-596

Authors: Wilson, A Leclerc, D Rosenblatt, DS Gravel, RA
Citation: A. Wilson et al., Molecular basis for methionine synthase reductase deficiency in patients belonging to the cbIE complementation group of disorders in folate/cobalaminmetabolism, HUM MOL GEN, 8(11), 1999, pp. 2009-2016

Authors: Christensen, B Arbour, L Tran, P Leclerc, D Sabbaghian, N Platt, R Gilfix, BM Rosenblatt, DS Gravel, RA Forbes, P Rozen, R
Citation: B. Christensen et al., Genetic polymorphisms in methylenetetrahydrofolate reductase and methionine synthase, folate levels in red blood cells, and risk of neural tube defects, AM J MED G, 84(2), 1999, pp. 151-157

Authors: Bibi, H Gelman-Kohan, Z Baumgartner, ER Rosenblatt, DS
Citation: H. Bibi et al., Transcobalamin II deficiency with methylmalonic aciduria in three sisters, J INH MET D, 22(7), 1999, pp. 765-772

Authors: Augoustides-Savvopoulou, P Mylonas, I Sewell, AC Rosenblatt, DS
Citation: P. Augoustides-savvopoulou et al., Reversible dementia in an adolescent with cblC disease: Clinical heterogeneity within the same family, J INH MET D, 22(6), 1999, pp. 756-758A

Authors: Enns, GM Barkovich, AJ Rosenblatt, DS Fredrick, DR Weisiger, K Ohnstad, C Packman, S
Citation: Gm. Enns et al., Progressive neurological deterioration and MRI changes in cblC methylmalonic acidaemia treated with hydroxocobalamin, J INH MET D, 22(5), 1999, pp. 599-607

Authors: Rosenblatt, DS Whitehead, VM
Citation: Ds. Rosenblatt et Vm. Whitehead, Cobalamin and folate deficiency: Acquired and hereditary disorders in children, SEM HEMATOL, 36(1), 1999, pp. 19-34

Authors: Sniderman, LC Lambert, M Giguere, R Auray-Blais, C Lemieux, B Laframboise, R Rosenblatt, DS Treacy, EP
Citation: Lc. Sniderman et al., Outcome of individuals with low-moderate methylmalonic aciduria detected through a neonatal screening program, J PEDIAT, 134(6), 1999, pp. 675-680

Authors: Rosenblatt, DS
Citation: Ds. Rosenblatt, Folate and homocysteine metabolism and gene polymorphisms in the etiology of Down syndrome, AM J CLIN N, 70(4), 1999, pp. 429-430
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