Perspectives on the evolution of genetic counselling: Experience over three decades in a family with recurrent lethal osteogenesis imperfecta
Bascunana, C., El Helou, J., Rauch, F.T., Bardai, G., Glorieux, F.H., Riviere, J-B., Byers, P., Kaplan, P.B., Rosenblatt, D.S.
Published in Molecular genetics and metabolism (01.09.2020)
Published in Molecular genetics and metabolism (01.09.2020)
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Journal Article
Mitochondrial vitamin B 12-binding proteins in patients with inborn errors of cobalamin metabolism
Moras, E., Hosack, A., Watkins, D., Rosenblatt, D.S.
Published in Molecular genetics and metabolism (01.02.2007)
Published in Molecular genetics and metabolism (01.02.2007)
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Journal Article
Homocysteine concentrations in adults with trisomy 21: effect of B vitamins and genetic polymorphisms
Fillon-Emery, N, Chango, A, Mircher, C, Barbe, F, Blehaut, H, Herbeth, B, Rosenblatt, D.S, Rethore, M.O, Lambert, D, Nicolas, J.P
Published in The American journal of clinical nutrition (01.12.2004)
Published in The American journal of clinical nutrition (01.12.2004)
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Journal Article
Mitochondrial vitamin B12-binding proteins in patients with inborn errors of cobalamin metabolism
Moras, E, Hosack, A, Watkins, D, Rosenblatt, D S
Published in Molecular genetics and metabolism (01.02.2007)
Published in Molecular genetics and metabolism (01.02.2007)
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Journal Article
A homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene (MCEE) results in mild methylmalonic aciduria
Bikker, H., Bakker, H.D., Abeling, N.G.G.M., Poll-The, B.T., Kleijer, W.J., Rosenblatt, D.S., Waterham, H.R., Wanders, R.J.A., Duran, M.
Published in Human mutation (01.07.2006)
Published in Human mutation (01.07.2006)
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Journal Article
Functionally Null Mutations in Patients with the cblG-Variant Form of Methionine Synthase Deficiency
Wilson, A., Leclerc, D., Saberi, F., Campeau, E., Hwang, H.Y., Shane, B., Phillips, J.A., Rosenblatt, D.S., Gravel, R.A.
Published in American journal of human genetics (01.08.1998)
Published in American journal of human genetics (01.08.1998)
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Journal Article
Nonsense Mutations in Human Transcobalamin II Deficiency
Li, N., Rosenblatt, D.S., Seetharam, B.
Published in Biochemical and biophysical research communications (15.11.1994)
Published in Biochemical and biophysical research communications (15.11.1994)
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Journal Article
Folate‐responsive homocystinuria and megaloblastic anaemia in a female patient with functional methionine synthase deficiency (cblE disease)
Fowler, B., Schutgens, R.B.H., Rosenblatt, D.S., Smit, G.P.A., Lindemans, J.
Published in Journal of inherited metabolic disease (01.11.1997)
Published in Journal of inherited metabolic disease (01.11.1997)
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Journal Article
Lysosomal cobalamin accumulation in fibroblasts from a patient with an inborn error of cobalamin metabolism (cblF complementation group): Visualization by electron microscope radioautography
Vassiliadis, Anthony, Rosenblatt, David S., Cooper, Bernard A., Bergeron, J.J.M.
Published in Experimental cell research (01.08.1991)
Published in Experimental cell research (01.08.1991)
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Journal Article
Vitamin B12-responsive megaloblastic anemia, homocystinuria, and transient methylmalonic aciduria in cblE disease
Tuchman, M, Kelly, P, Watkins, D, Rosenblatt, D.S
Published in The Journal of pediatrics (01.12.1988)
Published in The Journal of pediatrics (01.12.1988)
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Journal Article
Folate polyglutamate synthesis and turnover in cultured human fibroblasts
Hilton, J G, Cooper, B A, Rosenblatt, D S
Published in The Journal of biological chemistry (10.09.1979)
Published in The Journal of biological chemistry (10.09.1979)
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Journal Article
Methylenetetrahydrofolate reductase (MR) deficiency: Thermolability of residual MR activity, methionine synthase activity, and methylcobalamin levels in cultured fibroblasts
Rosenblatt, D.S., Lue-Shing, H., Arzoumanian, A., Low-Nang, L., Matiaszuk, N.
Published in Biochemical medicine and metabolic biology (01.06.1992)
Published in Biochemical medicine and metabolic biology (01.06.1992)
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Journal Article
Heterogeneity in cblG: Differential retention of cobalamin on methionine synthase
Sillaots, S.L., Hall, C.A., Hurteloup, V., Rosenblatt, D.S.
Published in Biochemical medicine and metabolic biology (01.06.1992)
Published in Biochemical medicine and metabolic biology (01.06.1992)
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Journal Article