Successful First Trimester Diagnosis in a Pregnancy at Risk for Propionic Acidaemia

Deficiency of propionyl-CoA carboxylase and methylcrotonyl-CoA carboxylase in a patient with methylcrotonylglycinuria

Walter Weyler, Lawrence Sweetman, Dominic C. Maggio et al. · Clinica Chimica Acta · 1977 · 125 citations

Life Sciences, Biochemistry, Clinical Biochemistry +5

Rapid prenatal and postnatal detection of inborn errors of propionate, methylmalonate, and cobalamin metabolism: A sensitive assay using cultured cells

Huntington F. Willard, L. M. Ambani, Anita C. Hart et al. · Human Genetics · 1976 · 124 citations

Medicine, Genetics, Obstetrics +14

Isotope dilution analysis of methylcitric acid in amniotic fluid for the prenatal diagnosis of propionic and methylmalonic acidemia

Gordon S. Naylor, Lawrence Sweetman, William L. Nyhan et al. · Clinica Chimica Acta · 1980 · 59 citations

Medicine, Biochemistry, Obstetrics +15

Prenatal diagnosis and family studies in a case of propionicacidaemia

D. Gompertz, Patricia A. Goodey, H. Thom et al. · Clinical Genetics · 1975 · 33 citations

Medicine, Biochemistry, Obstetrics +11

Activity of biotin‐dependent and gaba metabolizing enzymes in chorionic villus samples: Potential for 1st trimester prenatal diagnosis

Frances Ray Sweetman, K. Michael Gibson, Lawrence Sweetman et al. · Prenatal Diagnosis · 1986 · 27 citations

Life Sciences, Biochemistry, Obstetrics +14