Publications 2008/2009

Original Publications
Chapters





 

Original Publications

Yamani L, Gibbs BF, Gilfix BG, Watkins D, Hosack A, Rosenblatt DS. Transcobalamin in cultured fibroblasts from patients with inborn errors of vitamin B12 metabolism. Mol Genet Metab 95: 104-106, 2008

Prasad C, Rosenblatt DS, Corley K, Cairney AEL, Rupar CA. Transcobalamin (TC) deficiency-potential cause of bone marrow failure in childhood. J Inherit Metabol Dis, 31: 775, 2008.

Rutsch F, Gailus S, Miousse IR, Suormala T, Sagné, Toliat MR, Nurnberg G, Wittkampf T, Buers I, Shariffi A, Stucki M, Becker C, Baumgartner M, Robenek H, Marquardt T, Hohne W, Gasnier B, Rosenblatt DS, Fowler B, Nurnberg P. Identification of a putative lysosomal cobalamin exporter mutated in the cblF inborn error of vitamin B12 metabolism. Nat Genet, 41:234-239, 2009.

Miousse IR, Watkins D, Lavallée J, Coelho D, Rupar T, Clarke JTR, Crombez EA, Vilain E, Cederbaum S, Bernstein JA, Cowan T, Lee-Messer C, Enns GM, Fowler B, Rosenblatt DS. Clinical and molecular heterogeneity in patients with the cblD inborn error or cobalamin metabolism. J Pediatr, 154: 551-556, 2009

Loewy AD, Niles KM, Anastasio N, Watkins D, Lavoie J, Lerner-Ellis JP, Pastinen T, Trasler JM, Rosenblatt DS. Epigenetic modification of the gene for the vitamin B12 chaperone MMACHC can result in increased tumorigenicity and methionine dependence. Mol Genet Metab 96: 261-267, 2009

Lerner-Ellis JP, Anastasio N, Liu J, Coelho D, Suormala T, Stucki M, Loewy A, Gurd S, Grundberg E, Morel CF, Watkins D, Baumgartner MR, Pastinen T, Rosenblatt DS, Fowler B. Spectrum of mutations in MMACHC, allelic expression and evidence for genotype-phenotype correlations. Human Mutat., doi: 10.1002/humu, 21001, 2009

Chapters

Watkins D, Shevell M, and Rosenblatt DS: Vitamins: cobalamin and folate in The Molecular and Genetic Basis of Neurological and Psychiatric Disease (4th ed). Rosenberg RN, DiMauro S, Paulson H, Ptacek L and Nestler E (eds). Wolters Kluwer/Lippincott Williams & Wilkins. 2008 pp 733-738

Watkins D, Whitehead VM and Rosenblatt DS. Megaloblastic anemia in Nathan and Oski’s Hematology of Infancy and Childhood (7th ed). Orkin SH, Ginsburg D, Nathan DA, Look AT, Fisher DE (eds). 2009, Chapter 11 pp 467-520

Morel C and Rosenblatt DS. Inborn Errors of Folate and Cobalamin Transport and Metabolism in Pediatric Endocrinology and Inborn Errors of Metabolism.

 

 

 


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