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:
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:
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
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:
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
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
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