Prenatal diagnosis of galactosemia
- PMID: 687757
Item in Clipboard
Prenatal diagnosis of galactosemia
Biomedicine.
1978 Jun.
Abstract
We have monitored 3 pregnancies at risk for galactosemia by deficiency in Galactose-1-Phospho uridyl transferase. Galactosemia was diagnosed in the 1st case; heterozygoty in the 2nd, and a "double heterozygoty" in the 3rd. The latter is the first example of such a diagnosis. Post natal confirmation was obtained in the three cases. Arguments are given for the usefulness of this prenatal diagnosis.
Similar articles
-
Prenatal diagnosis of galactose-1-phosphate uridyltransferase (GALT)-deficient galactosemia.Prenat Diagn. 2001 Apr;21(4):302-3. doi: 10.1002/pd.46. Prenat Diagn. 2001. PMID: 11288121 No abstract available.
-
Estimation of amniotic cell galactose-1-phosphate uridyltransferase for prenatal diagnosis of galactosemia in Taiwan.Taiwan Yi Xue Hui Za Zhi. 1984 Jan;83(1):113-8. Taiwan Yi Xue Hui Za Zhi. 1984. PMID: 6327878 No abstract available.
-
Assay of galactose-1-phosphate uridyl transferase in cultured amniotic cells for prenatal diagnosis of galactosaemia.Clin Chim Acta. 1975 Jul 23;62(2):189-94. doi: 10.1016/0009-8981(75)90227-2. Clin Chim Acta. 1975. PMID: 1149286
-
[Galactose-1-phosphate uridyltransferase deficiency].Ryoikibetsu Shokogun Shirizu. 1998;(18 Pt 1):15-21. Ryoikibetsu Shokogun Shirizu. 1998. PMID: 9589977 Review. Japanese. No abstract available.
-
[Clinical variants and basic principles of the diagnosis of galactosemia (review of the literature)].Vopr Okhr Materin Det. 1975 Aug;20(8):58-62. Vopr Okhr Materin Det. 1975. PMID: 241152 Review. Russian. No abstract available.
Cited by
-
Isoelectrofocusing of erythrocyte galactose 1 phospho uridyl transferase in a family with both galactosemia and Duarte variants.Hum Genet. 1979 Jan 19;46(1):89-96. doi: 10.1007/BF00278906. Hum Genet. 1979. PMID: 429011