Unequal synthesis and differential degradation of propionyl CoA carboxylase subunits in cells from normal and propionic acidemia patients.

A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity

1983 • 26,063 citations

Direct identification of sickle cell anemia by blot hybridization.

1981 • 148 citations

Gene deletion and restriction fragment length polymorphisms at the human ornithine transcarbamylase locus

1985 • 127 citations

Isolation and characterization of propionyl-CoA carboxylase from normal human liver. Evidence for a protomeric tetramer of nonidentical subunits.

1980 • 111 citations

Biotin-response Organicaciduria

1979 • 108 citations

Inherited propionyl-CoA carboxylase deficiency in “ketotic hyperglycinemia”

1971 • 106 citations

Genetic complementation of propionyl-CoA carboxylase deficiency in cultured human fibroblasts.

1977 • 104 citations

Isolation of cDNA clones coding for the alpha and beta chains of human propionyl-CoA carboxylase: chromosomal assignments and DNA polymorphisms associated with PCCA and PCCB genes.

1986 • 102 citations

Cloning and screening with nanogram amounts of immunopurified mRNAs: cDNA cloning and chromosomal mapping of cystathionine beta-synthase and the beta subunit of propionyl-CoA carboxylase.

1986 • 74 citations

Molecular cloning and nucleotide sequence of cDNAs encoding the alpha-subunit of human electron transfer flavoprotein.

1988 • 67 citations

Coding sequence of the precursor of the beta subunit of rat propionyl-CoA carboxylase.

1986 • 54 citations

Biogenesis of the mitochondrial enzyme methylmalonyl-CoA mutase. Synthesis and processing of a precursor in a cell-free system and in cultured cells.

1984 • 54 citations

Unequal synthesis and differential degradation of alpha and beta spectrin during murine erythroid differentiation.

1988 • 52 citations

Heterozygote Expression in Propionyl Coenzyme A Carboxylase Deficiency

1978 • 46 citations

Heterogeneous expression of protein and mRNA in pyruvate dehydrogenase deficiency.

1988 • 40 citations

Molecular heterogeneity of variant isovaleryl-CoA dehydrogenase from cultured isovaleric acidemia fibroblasts.

1985 • 35 citations

Immunochemical studies of fibroblasts from patients with methylmalonyl-CoA mutase apoenzyme deficiency: detection of a mutation interfering with mitochondrial import.

1987 • 34 citations

Propionyl‐coenzyme A carboxylase of Mycobacterium smegmatis

1984 • 29 citations

Biosynthesis and mitochondrial processing of the beta subunit of propionyl coenzyme A carboxylase from rat liver.

1983 • 27 citations

Assignment of the alpha and beta chains of human propionyl-CoA carboxylase to genetic complementation groups.

1983 • 24 citations

Homocystinuria: biogenesis of cystathionine beta-synthase subunits in cultured fibroblasts and in an in vitro translation system programmed with fibroblast messenger RNA.

1984 • 22 citations

Immunochemical studies on cultured fibroblasts from patients with homocystinuria due to cystathionine beta-synthase deficiency.

1982 • 20 citations

Propionicacidemia: absence of alpha-chain mRNA in fibroblasts from patients of the pccA complementation group.

1987 • 16 citations