Watkins D - Search Results

1

Mutations in Hcfc1 and Ronin result in an inborn error of cobalamin metabolism and ribosomopathy.

Chern T, Achilleos A, Tong X, Hill MC, Saltzman AB, Reineke LC, Chaudhury A, Dasgupta SK, Redhead Y, Watkins D, Neilson JR, Thiagarajan P, Green JBA, Malovannaya A, Martin JF, Rosenblatt DS, Poché RA. Chern T, et al. Among authors: watkins d. Nat Commun. 2022 Jan 10;13(1):134. doi: 10.1038/s41467-021-27759-7. Nat Commun. 2022. PMID: 35013307 Free PMC article.

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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