Rosenblatt DS - Search Results

1

Genetic heterogeneity among patients with methylcobalamin deficiency. Definition of two complementation groups, cblE and cblG.

Watkins D, Rosenblatt DS. Watkins D, et al. Among authors: rosenblatt ds. J Clin Invest. 1988 Jun;81(6):1690-4. doi: 10.1172/JCI113507. J Clin Invest. 1988. PMID: 3384945 Free PMC article.

2

Lessons in biology from patients with inborn errors of vitamin B12 metabolism.

Watkins D, Rosenblatt DS. Watkins D, et al. Among authors: rosenblatt ds. Biochimie. 2013 May;95(5):1019-22. doi: 10.1016/j.biochi.2013.01.013. Epub 2013 Feb 10. Biochimie. 2013. PMID: 23402785 Review.

3

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.

4

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.

5

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

6

Cloning and mapping of a cDNA for methionine synthase reductase, a flavoprotein defective in patients with homocystinuria.

Leclerc D, Wilson A, Dumas R, Gafuik C, Song D, Watkins D, Heng HH, Rommens JM, Scherer SW, Rosenblatt DS, Gravel RA. Leclerc D, et al. Among authors: rosenblatt ds. Proc Natl Acad Sci U S A. 1998 Mar 17;95(6):3059-64. doi: 10.1073/pnas.95.6.3059. Proc Natl Acad Sci U S A. 1998. PMID: 9501215 Free PMC article.

7

Complementation studies in the cblA class of inborn error of cobalamin metabolism: evidence for interallelic complementation and for a new complementation class (cblH).

Watkins D, Matiaszuk N, Rosenblatt DS. Watkins D, et al. Among authors: rosenblatt ds. J Med Genet. 2000 Jul;37(7):510-3. doi: 10.1136/jmg.37.7.510. J Med Genet. 2000. PMID: 10882753 Free PMC article.

8

Clinical and molecular heterogeneity in patients with the cblD inborn error of cobalamin metabolism.

Miousse IR, Watkins D, Coelho D, Rupar T, Crombez EA, Vilain E, Bernstein JA, Cowan T, Lee-Messer C, Enns GM, Fowler B, Rosenblatt DS. Miousse IR, et al. Among authors: rosenblatt ds. J Pediatr. 2009 Apr;154(4):551-6. doi: 10.1016/j.jpeds.2008.10.043. Epub 2008 Dec 5. J Pediatr. 2009. PMID: 19058814

9

Transcobalamin in cultured fibroblasts from patients with inborn errors of vitamin B12 metabolism.

Yamani L, Gibbs BF, Gilfix BM, Watkins D, Hosack A, Rosenblatt DS. Yamani L, et al. Among authors: rosenblatt ds. Mol Genet Metab. 2008 Sep-Oct;95(1-2):104-6. doi: 10.1016/j.ymgme.2008.05.007. Epub 2008 Jul 7. Mol Genet Metab. 2008. PMID: 18606554

10

Epigenetic modification of the gene for the vitamin B(12) chaperone MMACHC can result in increased tumorigenicity and methionine dependence.

Loewy AD, Niles KM, Anastasio N, Watkins D, Lavoie J, Lerner-Ellis JP, Pastinen T, Trasler JM, Rosenblatt DS. Loewy AD, et al. Among authors: rosenblatt ds. Mol Genet Metab. 2009 Apr;96(4):261-7. doi: 10.1016/j.ymgme.2008.12.011. Epub 2009 Feb 5. Mol Genet Metab. 2009. PMID: 19200761

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