Rosenblatt DS - Search Results

1

Molecular basis for dysfunction of some mutant forms of methylmalonyl-CoA mutase: deductions from the structure of methionine synthase.

Drennan CL, Matthews RG, Rosenblatt DS, Ledley FD, Fenton WA, Ludwig ML. Drennan CL, et al. Among authors: rosenblatt ds. Proc Natl Acad Sci U S A. 1996 May 28;93(11):5550-5. doi: 10.1073/pnas.93.11.5550. Proc Natl Acad Sci U S A. 1996. PMID: 8643613 Free PMC article.

2

Mutations in mut methylmalonic acidemia: clinical and enzymatic correlations.

Ledley FD, Rosenblatt DS. Ledley FD, et al. Among authors: rosenblatt ds. Hum Mutat. 1997;9(1):1-6. doi: 10.1002/(SICI)1098-1004(1997)9:1<1::AID-HUMU1>3.0.CO;2-E. Hum Mutat. 1997. PMID: 8990001 Review.

3

[A molecular study of methylmalonic aciduria: structure-function correlations].

Rosenblatt DS, Ledley FD. Rosenblatt DS, et al. Bull Acad Natl Med. 1996 Oct;180(7):1553-63; discussion 1563-4. Bull Acad Natl Med. 1996. PMID: 9102141 Review. French.

4

Varying neurological phenotypes among muto and mut- patients with methylmalonylCoA mutase deficiency.

Shevell MI, Matiaszuk N, Ledley FD, Rosenblatt DS. Shevell MI, et al. Among authors: rosenblatt ds. Am J Med Genet. 1993 Mar 1;45(5):619-24. doi: 10.1002/ajmg.1320450521. Am J Med Genet. 1993. PMID: 7681251

5

Genetic characterization of a MUT locus mutation discriminating heterogeneity in mut0 and mut- methylmalonic aciduria by interallelic complementation.

Raff ML, Crane AM, Jansen R, Ledley FD, Rosenblatt DS. Raff ML, et al. Among authors: rosenblatt ds. J Clin Invest. 1991 Jan;87(1):203-7. doi: 10.1172/JCI114972. J Clin Invest. 1991. PMID: 1670635 Free PMC article.

6

Cloning and expression of mutations demonstrating intragenic complementation in mut0 methylmalonic aciduria.

Qureshi AA, Crane AM, Matiaszuk NV, Rezvani I, Ledley FD, Rosenblatt DS. Qureshi AA, et al. Among authors: rosenblatt ds. J Clin Invest. 1994 Apr;93(4):1812-9. doi: 10.1172/JCI117166. J Clin Invest. 1994. PMID: 7909321 Free PMC article.

7

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

8

Ketoacidotic crisis as a presentation of mild ("benign") methylmalonic acidemia.

Shapira SK, Ledley FD, Rosenblatt DS, Levy HL. Shapira SK, et al. Among authors: rosenblatt ds. J Pediatr. 1991 Jul;119(1 Pt 1):80-4. doi: 10.1016/s0022-3476(05)81045-5. J Pediatr. 1991. PMID: 2066863 No abstract available.

9

Human methylenetetrahydrofolate reductase: isolation of cDNA, mapping and mutation identification.

Goyette P, Sumner JS, Milos R, Duncan AM, Rosenblatt DS, Matthews RG, Rozen R. Goyette P, et al. Among authors: rosenblatt ds. Nat Genet. 1994 Jun;7(2):195-200. doi: 10.1038/ng0694-195. Nat Genet. 1994. PMID: 7920641

10

Identification of the gene responsible for the cblA complementation group of vitamin B12-responsive methylmalonic acidemia based on analysis of prokaryotic gene arrangements.

Dobson CM, Wai T, Leclerc D, Wilson A, Wu X, Doré C, Hudson T, Rosenblatt DS, Gravel RA. Dobson CM, et al. Among authors: rosenblatt ds. Proc Natl Acad Sci U S A. 2002 Nov 26;99(24):15554-9. doi: 10.1073/pnas.242614799. Epub 2002 Nov 15. Proc Natl Acad Sci U S A. 2002. PMID: 12438653 Free PMC article.

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