Nora V. Matiaszuk

Glycine <b><i>N</i></b><b>‐methyltransferase deficiency: A novel inborn error causing persistent isolated hypermethioninaemia</b>

S. Harvey Mudd, R. Cerone, M. C. Schiaffino et al. · Journal of Inherited Metabolic Disease · 2001 · 150 citations

Life Sciences, Biochemistry, Genetics +11

Defect in Vitamin B ₁₂ Release from Lysosomes: Newly Described Inborn Error of Vitamin B ₁₂ Metabolism

David S. Rosenblatt, Angela Hosack, Nora V. Matiaszuk et al. · Science · 1985 · 139 citations

Life Sciences, Biochemistry, Cell Biology +15

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

David S. Rosenblatt, Bernard A. Cooper, Angela Pottier et al. · Journal of Clinical Investigation · 1984 · 107 citations · Full text

Life Sciences, Biochemistry, Metabolism +16

Varying neurological phenotypes among <i>mut°</i> and <i>mut−</i> patients with methylmalonylCoA mutase deficiency

Michael Shevell, Nora V. Matiaszuk, Fred D. Ledley et al. · American Journal of Medical Genetics · 1993 · 57 citations

Life Sciences, Neurology, Pediatrics +16

Seven novel mutations inmut methylmalonic aciduria

Charles Adjalla, Angela Hosack, Brian M. Gilfix et al. · Human Mutation · 1998 · 33 citations

Life Sciences, Genetics, Molecular Genetics +17