Watkins D - Search Results

1

The MMACHC variant c.158T>C: Mild clinical and biochemical phenotypes and marked hydroxocobalamin response in cblC patients.

Demaret T, Bédard K, Soucy JF, Watkins D, Allard P, Levtova A, O'Brien A, Brunel-Guitton C, Rosenblatt DS, Mitchell GA. Demaret T, et al. Among authors: watkins d. Mol Genet Metab. 2024 May;142(1):108345. doi: 10.1016/j.ymgme.2024.108345. Epub 2024 Feb 10. Mol Genet Metab. 2024. PMID: 38387306

2

Methylmalonic aciduria due to a new defect in adenosylcobalamin accumulation by cells.

Cooper BA, Rosenblatt DS, Watkins D. Cooper BA, et al. Among authors: watkins d. Am J Hematol. 1990 Jun;34(2):115-20. doi: 10.1002/ajh.2830340207. Am J Hematol. 1990. PMID: 2339678

3

Defective lysosomal release of vitamin B12 (cb1F): a hereditary cobalamin metabolic disorder associated with sudden death.

Shih VE, Axel SM, Tewksbury JC, Watkins D, Cooper BA, Rosenblatt DS. Shih VE, et al. Among authors: watkins d. Am J Med Genet. 1989 Aug;33(4):555-63. doi: 10.1002/ajmg.1320330431. Am J Med Genet. 1989. PMID: 2596518

4

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

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

5

Hereditary defect of cobalamin metabolism (cblG mutation) presenting as a neurologic disorder in adulthood.

Carmel R, Watkins D, Goodman SI, Rosenblatt DS. Carmel R, et al. Among authors: watkins d. N Engl J Med. 1988 Jun 30;318(26):1738-41. doi: 10.1056/NEJM198806303182607. N Engl J Med. 1988. PMID: 2897628 No abstract available.

6

Vitamin B12-responsive megaloblastic anemia, homocystinuria, and transient methylmalonic aciduria in cb1E disease.

Tuchman M, Kelly P, Watkins D, Rosenblatt DS. Tuchman M, et al. Among authors: watkins d. J Pediatr. 1988 Dec;113(6):1052-6. doi: 10.1016/s0022-3476(88)80582-1. J Pediatr. 1988. PMID: 3193313 No abstract available.

7

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

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

8

Failure of lysosomal release of vitamin B12: a new complementation group causing methylmalonic aciduria (cblF).

Watkins D, Rosenblatt DS. Watkins D, et al. Am J Hum Genet. 1986 Sep;39(3):404-8. Am J Hum Genet. 1986. PMID: 3766542 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. Among authors: watkins d. Am J Med Genet. 1987 Feb;26(2):377-83. doi: 10.1002/ajmg.1320260216. Am J Med Genet. 1987. PMID: 3812589

10

Clinical heterogeneity in cobalamin C variant of combined homocystinuria and methylmalonic aciduria.

Mitchell GA, Watkins D, Melançon SB, Rosenblatt DS, Geoffroy G, Orquin J, Homsy MB, Dallaire L. Mitchell GA, et al. Among authors: watkins d. J Pediatr. 1986 Mar;108(3):410-5. doi: 10.1016/s0022-3476(86)80882-4. J Pediatr. 1986. PMID: 3950820

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