Publications 2009/2010

ORIGINAL PUBLICATIONS

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 30:1072-1081, 2009

Li, F, Watkins D, Rosenblatt DS. Vitamin B₁₂ and birth defects. Molec Genet Metab 98:166-172, 2009.

Hannibal L, Kim J, Brasch NE, Wang S, Rosenblatt DS, Banerjee R, Jacobsen DW. Processing of alkylcobalamins in mammalian cells: a role for the MMACHC (cblC) gene product. Molec Genet Metab 97:260-2166, 2009.

Lin HJ, Neidich JA, Salazar D, Thomas-Johnson E, Ferreira BF, Kwong AM, Lin AM, Jonas AJ, Levine S, Lorey F, Rosenblatt DS. Asymptomatic maternal combined homocystinuria and methylmalonic aciduria (cblC) detected through low carnitine levels on newborn screening. J Pediatr 155: 924-927, 2009

CHAPTERS

Watkins D, Whitehead VM and Rosenblatt DS. Megaloblastic anemia in Nathan and Oski’s Hematology of Infancy and Childhood (7^th 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. Eds. Sarafoglou K, Hoffman GF and Roth KS. McGraw-Hill Companies. 2009. pp 195-212.

Watkins D and Rosenblatt DS. Vitamin B₁₂ and folate metabolism. In: Mechanisms in Hematology, 4th Edition, Israels LG and Israels, E.D (eds), Core Health Services. 2009, Chapter 11, pp 1-32

Watkins D and Rosenblatt DS. Vitamin B₁₂: disorders of absorption and metabolism. In: Encyclopedia of Life Sciences, John Wiley and Sons, Chichester. Doi:10.1002/9780470015902.a0002267.pub2, 2010.

Rosenblatt DS, Watkins D. Prenatal diagnosis of miscellaneous biochemical disorders. In: Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment, 6th Edition, A. Milunsky (ed), Wiley-Blackwell, Oxford. 2010, Chapter 19 pp 614-627.

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