Rosenblatt DS - Search Results

1

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. Harding CO, et al. Among authors: rosenblatt ds. Am J Med Genet. 1997 Sep 5;71(4):384-90. doi: 10.1002/(sici)1096-8628(19970905)71:4<384::aid-ajmg3>3.0.co;2-u. Am J Med Genet. 1997. PMID: 9286442 Review.

2

Functional methionine synthase deficiency (cblE and cblG): clinical and biochemical heterogeneity.

Watkins D, Rosenblatt DS. Watkins D, et al. Among authors: rosenblatt ds. Am J Med Genet. 1989 Nov;34(3):427-34. doi: 10.1002/ajmg.1320340320. Am J Med Genet. 1989. PMID: 2688421 Review.

3

Potential for misdiagnosis due to lack of metabolic derangement in combined methylmalonic aciduria/hyperhomocysteinemia (cblC) in the neonate.

Harding CO, Pillers DA, Steiner RD, Bottiglieri T, Rosenblatt DS, Debley J, Michael Gibson K. Harding CO, et al. Among authors: rosenblatt ds. J Perinatol. 2003 Jul-Aug;23(5):384-6. doi: 10.1038/sj.jp.7210955. J Perinatol. 2003. PMID: 12847533

4

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. Leclerc D, et al. Among authors: rosenblatt ds. Hum Mol Genet. 1996 Dec;5(12):1867-74. doi: 10.1093/hmg/5.12.1867. Hum Mol Genet. 1996. PMID: 8968737

5

Symptomatic and asymptomatic methylenetetrahydrofolate reductase deficiency in two adult brothers.

Haworth JC, Dilling LA, Surtees RA, Seargeant LE, Lue-Shing H, Cooper BA, Rosenblatt DS. Haworth JC, et al. Among authors: rosenblatt ds. Am J Med Genet. 1993 Mar 1;45(5):572-6. doi: 10.1002/ajmg.1320450510. Am J Med Genet. 1993. PMID: 8456826

6

Genetic polymorphisms in methylenetetrahydrofolate reductase and methionine synthase, folate levels in red blood cells, and risk of neural tube defects.

Christensen B, Arbour L, Tran P, Leclerc D, Sabbaghian N, Platt R, Gilfix BM, Rosenblatt DS, Gravel RA, Forbes P, Rozen R. Christensen B, et al. Among authors: rosenblatt ds. Am J Med Genet. 1999 May 21;84(2):151-7. doi: 10.1002/(sici)1096-8628(19990521)84:2<151::aid-ajmg12>3.0.co;2-t. Am J Med Genet. 1999. PMID: 10323741

7

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 3rd, Rosenblatt DS, Gravel RA. Wilson A, et al. Among authors: rosenblatt ds. Am J Hum Genet. 1998 Aug;63(2):409-14. doi: 10.1086/301976. Am J Hum Genet. 1998. PMID: 9683607 Free PMC article.

8

Hyperhomocysteinemia due to methionine synthase deficiency, cblG: structure of the MTR gene, genotype diversity, and recognition of a common mutation, P1173L.

Watkins D, Ru M, Hwang HY, Kim CD, Murray A, Philip NS, Kim W, Legakis H, Wai T, Hilton JF, Ge B, Doré C, Hosack A, Wilson A, Gravel RA, Shane B, Hudson TJ, Rosenblatt DS. Watkins D, et al. Among authors: rosenblatt ds. Am J Hum Genet. 2002 Jul;71(1):143-53. doi: 10.1086/341354. Epub 2002 May 30. Am J Hum Genet. 2002. PMID: 12068375 Free PMC article.

9

Vitamin B12 responsive homocystinuria and megaloblastic anemia: heterogeneity in methylcobalamin deficiency.

Rosenblatt DS, Thomas IT, Watkins D, Cooper BA, Erbe RW. Rosenblatt DS, et al. Am J Med Genet. 1987 Feb;26(2):377-83. doi: 10.1002/ajmg.1320260216. Am J Med Genet. 1987. PMID: 3812589

10

Methylenetetrahydrofolate reductase deficiency in a patient with phenotypic findings of Angelman syndrome.

Arn PH, Williams CA, Zori RT, Driscoll DJ, Rosenblatt DS. Arn PH, et al. Among authors: rosenblatt ds. Am J Med Genet. 1998 May 18;77(3):198-200. Am J Med Genet. 1998. PMID: 9605586

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