Hereditary Defect of Cobalamin Metabolism (CblGMutation) Presenting as a Neurologic Disorder in Adulthood

Disorders of propionate and methylmalonate metabolism

1982 • 531 citations

Diagnosis of organic acidemias by gas chromatography--mass spectrometry.

1981 • 143 citations

Homocystinuria with methylmalonic aciduria: Two cases in a sibship

1970 • 137 citations

Inherited Defects of Vitamin B Metabolism

1987 • 128 citations

Genetic complementation among inherited deficiencies of methylmalonyl-CoA mutase activity: evidence for a new class of human cobalamin mutant.

1978 • 110 citations

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

1984 • 106 citations

Atypical cobalamin deficiency. Subtle biochemical evidence of deficiency is commonly demonstrable in patients without megaloblastic anemia and is often associated with protein-bound cobalamin malabsorption.

1987 • 104 citations

Genetic heterogeneity among patients with methylcobalamin deficiency. Definition of two complementation groups, cblE and cblG.

1988 • 84 citations

Cobalamin C Mutation (Methylmalonic Aciduria and Homocystinuria) in Adolescence

1984 • 80 citations

Clinical heterogeneity in cobalamin C variant of combined homocystinuria and methylmalonic aciduria

1986 • 61 citations

Rapid analysis of cobalamin coenzymes and related corrinoid analogs by high-performance liquid chromatography

1982 • 57 citations

Cobalamin Binding and Cobalamin-Dependent Enzyme Activity in Normal and Mutant Human Fibroblasts

1978 • 52 citations

Neurologic abnormalities in cobalamin deficiency are associated with higher cobalamin "analogue" values than are hematologic abnormalities.

1988 • 50 citations

The distribution of endogenous cobalamin among cobalamin-binding proteins in the blood in normal and abnormal states

1985 • 39 citations

Vitamin B₁₂ responsive homocystinuria and megaloblastic anemia: Heterogeneity in methylcobalamin deficiency

1987 • 31 citations

Abnormal deoxyuridine suppression test in congenital methylmalonic aciduria-homocystinuria without megaloblastic anemia: divergent biochemical and morphological bone marrow manifestations of disordered cobalamin metabolism in man

1982 • 27 citations

The effect of rhodium and copper analogs of cobalamin on human cells in vitro

1977 • 27 citations

Monoclonal Antibodies to Different Sites on Human Transcobalamin II

1988 • 6 citations