Ng, W G., et al. "Prenatal Diagnosis of Galactosemia." Clinica Chimica Acta; International Journal of Clinical Chemistry, vol. 74, no. 3, 1977, pp. 227-35.
Ng WG, Donnell GN, Bergren WR, et al. Prenatal diagnosis of galactosemia. Clin Chim Acta. 1977;74(3):227-35.
Ng, W. G., Donnell, G. N., Bergren, W. R., Alfi, O., & Golbus, M. S. (1977). Prenatal diagnosis of galactosemia. Clinica Chimica Acta; International Journal of Clinical Chemistry, 74(3), 227-35.
Ng WG, et al. Prenatal Diagnosis of Galactosemia. Clin Chim Acta. 1977 Feb 1;74(3):227-35. PubMed PMID: 188570.
TY - JOUR
T1 - Prenatal diagnosis of galactosemia.
AU - Ng,W G,
AU - Donnell,G N,
AU - Bergren,W R,
AU - Alfi,O,
AU - Golbus,M S,
PY - 1977/2/1/pubmed
PY - 1977/2/1/medline
PY - 1977/2/1/entrez
SP - 227
EP - 35
JF - Clinica chimica acta; international journal of clinical chemistry
JO - Clin Chim Acta
VL - 74
IS - 3
N2 - Prenatal diagnosis of disorders of galactose metabolism was done in one instance in a family with a known galactokinase deficiency and in six cases in five families at risk for galactosemia. The galactokinase activity in cultured amniotic cells was found to be normal, and the diagnosis was confirmed postnatally. In the six pregnancies at risk for galactosemia, four were considered to be unaffected and two to be affected. Of the latter, one was carried to term, and the erythrocyte transferase activity of the baby was shown to be absent. The other pregnancy was terminated, and examination of fetal tissues by biochemical studies confirmed the diagnosis. This experience substantiates the concept that prenatal diagnosis of disorders of galactose metabolism is feasible.
SN - 0009-8981
UR - https://www.unboundmedicine.com/medline/citation/188570/Prenatal_diagnosis_of_galactosemia_
L2 - https://linkinghub.elsevier.com/retrieve/pii/0009-8981(77)90289-3
DB - PRIME
DP - Unbound Medicine