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Severe and mild mutations in cis for the methylenetetrahydrofolate reductase (MTHFR) gene, and description of five novel mutations in MTHFR.
Goyette P, Christensen B, Rosenblatt DS, Rozen R. Goyette P, et al. Among authors: rosenblatt ds. Am J Hum Genet. 1996 Dec;59(6):1268-75. Am J Hum Genet. 1996. PMID: 8940272 Free PMC article.
Seven novel mutations in mut methylmalonic aciduria.
Adjalla CE, Hosack AR, Gilfix BM, Lamothe E, Sun S, Chan A, Evans S, Matiaszuk NV, Rosenblatt DS. Adjalla CE, et al. Among authors: rosenblatt ds. Hum Mutat. 1998;11(4):270-4. doi: 10.1002/(SICI)1098-1004(1998)11:4<270::AID-HUMU3>3.0.CO;2-T. Hum Mutat. 1998. PMID: 9554742
A common mutation among blacks with mut- methylmalonic aciduria.
Adjalla CE, Hosack AR, Matiaszuk NV, Rosenblatt DS. Adjalla CE, et al. Among authors: rosenblatt ds. Hum Mutat. 1998;Suppl 1:S248-50. doi: 10.1002/humu.1380110179. Hum Mutat. 1998. PMID: 9452100 No abstract available.
Clinical heterogeneity and prognosis in combined methylmalonic aciduria and homocystinuria (cblC).
Rosenblatt DS, Aspler AL, Shevell MI, Pletcher BA, Fenton WA, Seashore MR. Rosenblatt DS, et al. J Inherit Metab Dis. 1997 Aug;20(4):528-38. doi: 10.1023/a:1005353530303. J Inherit Metab Dis. 1997. PMID: 9266389
A homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene (MCEE) results in mild methylmalonic aciduria.
Bikker H, Bakker HD, Abeling NG, Poll-The BT, Kleijer WJ, Rosenblatt DS, Waterham HR, Wanders RJ, Duran M. Bikker H, et al. Among authors: rosenblatt ds. Hum Mutat. 2006 Jul;27(7):640-3. doi: 10.1002/humu.20373. Hum Mutat. 2006. PMID: 16752391
Identification of two mutant alleles of transcobalamin II in an affected family.
Li N, Rosenblatt DS, Kamen BA, Seetharam S, Seetharam B. Li N, et al. Among authors: rosenblatt ds. Hum Mol Genet. 1994 Oct;3(10):1835-40. doi: 10.1093/hmg/3.10.1835. Hum Mol Genet. 1994. PMID: 7849710
Reporting results from whole-genome and whole-exome sequencing in clinical practice: a proposal for Canada?
Zawati MH, Parry D, Thorogood A, Nguyen MT, Boycott KM, Rosenblatt D, Knoppers BM. Zawati MH, et al. J Med Genet. 2014 Jan;51(1):68-70. doi: 10.1136/jmedgenet-2013-101934. Epub 2013 Sep 27. J Med Genet. 2014. PMID: 24078715
Methionine auxotrophy in inborn errors of cobalamin metabolism.
Garovic-Kocic V, Rosenblatt DS. Garovic-Kocic V, et al. Among authors: rosenblatt ds. Clin Invest Med. 1992 Aug;15(4):395-400. Clin Invest Med. 1992. PMID: 1516297
Thermolability of residual methylene-tetrahydrofolate reductase (MR) activity, methionine synthase activity and methyl-cobalamin levels in cultured fibroblasts from patients with MR deficiency.
Rosenblatt DS, Lue-Shing H, Matiaszuk N, Low-Nang L, Arzoumanian A, Cooper BA. Rosenblatt DS, et al. Adv Exp Med Biol. 1993;338:703-6. doi: 10.1007/978-1-4615-2960-6_145. Adv Exp Med Biol. 1993. PMID: 8304210 No abstract available.
Update on transcobalamin deficiency: clinical presentation, treatment and outcome.
Trakadis YJ, Alfares A, Bodamer OA, Buyukavci M, Christodoulou J, Connor P, Glamuzina E, Gonzalez-Fernandez F, Bibi H, Echenne B, Manoli I, Mitchell J, Nordwall M, Prasad C, Scaglia F, Schiff M, Schrewe B, Touati G, Tchan MC, Varet B, Venditti CP, Zafeiriou D, Rupar CA, Rosenblatt DS, Watkins D, Braverman N. Trakadis YJ, et al. Among authors: rosenblatt ds. J Inherit Metab Dis. 2014 May;37(3):461-73. doi: 10.1007/s10545-013-9664-5. Epub 2013 Dec 5. J Inherit Metab Dis. 2014. PMID: 24305960
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