Publications
2008/2009 |
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
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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