Ojwang, P. J., Pegoraro, R. J., Deppe, W. M., Sanker, R., McKerro, N., Varughese, L., ...
(East African Medical Journal, 2001: 78 (12): 682-685)
Valle, D, Goodman, S I, Applegarth, D A, Shih, V E, Phang, J M
Type II hyperprolinemia is an inherited abnormality in amino acid metabolism characterized by elevated plasma proline concentrations, iminoglycinuria, and the urinary excretion of delta1-pyrroline...
Valle, D, Goodman, S I, Harris, S C, Phang, J M
The initial step in the degradation pathways of proline and hydroxyproline is catalyzed by proline oxidase and hydroxyproline oxidase, yielding delta 1-pyrroline-5-carboxylate and delta...
Glutaric acidemia type II (GA II) is a human genetic disorder. It has been suggested that the primary defect in this disorder is a deficiency of a protein involved in electron transport between the...
Carrier screening for phenylketonuria: comparison of two discriminant analysis procedures.
Freehauf, C L, Lezotte, D, Goodman, S I, McCabe, E R
Absence of a convenient, direct enzyme assay for detecting phenylketonuria (PKU) heterozygotes has resulted in continued effort to develop an accurate and reliable procedure to discriminate the...
Antenatal diagnosis of glutaric acidemia.
Goodman, S I, Gallegos, D A, Pullin, C J, Halpern, B, Truscott, R J, Wise, G, ...
Two pregnancies at risk for glutaric acidemia were monitored. In one, in which the fetus was not affected, glutaric acid was not detected in the amniotic fluid at amniocentesis (15 weeks) and the...
Valle, D, Goodman, S I, Applegarth, D A, Shih, V E, Phang, J M
Type II hyperprolinemia is an inherited abnormality in amino acid metabolism characterized by elevated plasma proline concentrations, iminoglycinuria, and the urinary excretion of delta1-pyrroline...
Valle, D, Goodman, S I, Harris, S C, Phang, J M
The initial step in the degradation pathways of proline and hydroxyproline is catalyzed by proline oxidase and hydroxyproline oxidase, yielding delta 1-pyrroline-5-carboxylate and delta...
Glutaric acidemia type II (GA II) is a human genetic disorder. It has been suggested that the primary defect in this disorder is a deficiency of a protein involved in electron transport between the...
Carrier screening for phenylketonuria: comparison of two discriminant analysis procedures.
Freehauf, C L, Lezotte, D, Goodman, S I, McCabe, E R
Absence of a convenient, direct enzyme assay for detecting phenylketonuria (PKU) heterozygotes has resulted in continued effort to develop an accurate and reliable procedure to discriminate the...
Antenatal diagnosis of glutaric acidemia.
Goodman, S I, Gallegos, D A, Pullin, C J, Halpern, B, Truscott, R J, Wise, G, ...
Two pregnancies at risk for glutaric acidemia were monitored. In one, in which the fetus was not affected, glutaric acid was not detected in the amniotic fluid at amniocentesis (15 weeks) and the...
Biery, B. J., Stein, D. E., Morton, D. H., Goodman, S. I.
The structure of the human glutaryl coenzyme A dehydrogenase (GCD) gene was determined to contain 11 exons and to span approximately 7 kb. Fibroblast DNA from 64 unrelated glutaric acidemia type I...