N. Matiaszuk

发表

Varying neurological phenotypes among muto and mut- patients with methylmalonylCoA mutase deficiency.

M. Shevell, F. Ledley, D. Rosenblatt, 1993, American journal of medical genetics.

Cloning and Expression of Mutations Demonstrating Intragenic Complementation in mut° Methylmalonic Aciduria

F. Ledley, D. Rosenblatt, A. Crane, 2013 .

Expression of transcobalamin II by amniocytes

D. Rosenblatt, N. Matiaszuk, A. Hosack, 1987, Prenatal diagnosis.

Complementation studies in the cblAclass of inborn error of cobalamin metabolism: evidence for interallelic complementation and for a new complementation class (cblH)

D. Watkins, N. Matiaszuk, D. Rosenblatt, 2000, Journal of medical genetics.

Methylenetetrahydrofolate reductase (MR) deficiency: thermolability of residual MR activity, methionine synthase activity, and methylcobalamin levels in cultured fibroblasts.

D. Rosenblatt, A. Arzoumanian, N. Matiaszuk, 1992, Biochemical medicine and metabolic biology.

Defect in vitamin B12 release from lysosomes: newly described inborn error of vitamin B12 metabolism.

R. Laframboise, D. Rosenblatt, B. Cooper, 1985, Science.

Altered vitamin B12 metabolism in fibroblasts from a patient with megaloblastic anemia and homocystinuria due to a new defect in methionine biosynthesis.

D. Rosenblatt, B. Cooper, N. Matiaszuk, 1984, The Journal of clinical investigation.

A common mutation among blacks with mut− methylmalonic aciduria

D. Rosenblatt, N. Matiaszuk, C. Adjalla, 1998, Human mutation.

Seven novel mutations in mut methylmalonic aciduria

S. Evans, D. Rosenblatt, B. Gilfix, 1998, Human mutation.

Glycine N-methyltransferase deficiency: A novel inborn error causing persistent isolated hypermethioninaemia

R. Lorini, R. Rozen, G. Minniti, 2001, Journal of Inherited Metabolic Disease.

Thermolability of residual methylene-tetrahydrofolate reductase (MR) activity, methionine synthase activity and methyl-cobalamin levels in cultured fibroblasts from patients with MR deficiency.

D. Rosenblatt, B. Cooper, A. Arzoumanian, 1993, Advances in experimental medicine and biology.

Differential effects of folinic acid and glycine, adenosine, and thymidine as rescue agents in methotrexate-treated human cells in relation to the accumulation of methotrexate polyglutamates.

D. Rosenblatt, M. Vuchich, V. Whitehead, 1982, Molecular pharmacology.

Cloning and expression of mutations demonstrating intragenic complementation in mut0 methylmalonic aciduria.

F. Ledley, D. Rosenblatt, A. Crane, 1994, The Journal of clinical investigation.

Inhibition of methotrexate polyglutamate accumulation in cultured human cells.

D. Rosenblatt, M. Vuchich, V. Whitehead, 1981, Molecular pharmacology.