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Prenatal diagnosis of galactosaemia.
Br Med J. 1974 Nov 16; 4(5941):386-7.BM

Abstract

We have monitored two pregnancies from families at risk for galactosaemia. The fetus was diagnosed as having galactosaemia in one and to be unaffected in the other. The accuracy of the predictions was confirmed postnatally. Assays for galactose 1-phosphate uridyl transferase involving the reduction of the coenzymes NAD or NADP are unsuitable for amniotic cells whereas estimation of (14)C-UDP-galactose produced from (14)C-galactose 1-phosphate detected the homozygous mutant fetus.

Links

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Authors

Fensom AH
No affiliation info available
Benson PF
No affiliation info available
Blunt S
No affiliation info available

MeSH

AmniocentesisAmniotic FluidCarbon RadioisotopesCells, CulturedFemaleGalactoseGalactosemiasHexosephosphatesHumansNADNADPNucleotidyltransferasesPregnancyPrenatal Diagnosis

Pub Type(s)

Journal Article

Language

eng

PubMed ID

4154122

Citation

Fensom, A H., et al. "Prenatal Diagnosis of Galactosaemia." British Medical Journal, vol. 4, no. 5941, 1974, pp. 386-7.
Fensom AH, Benson PF, Blunt S. Prenatal diagnosis of galactosaemia. Br Med J. 1974;4(5941):386-7.
Fensom, A. H., Benson, P. F., & Blunt, S. (1974). Prenatal diagnosis of galactosaemia. British Medical Journal, 4(5941), 386-7.
Fensom AH, Benson PF, Blunt S. Prenatal Diagnosis of Galactosaemia. Br Med J. 1974 Nov 16;4(5941):386-7. PubMed PMID: 4154122.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Prenatal diagnosis of galactosaemia. AU - Fensom,A H, AU - Benson,P F, AU - Blunt,S, PY - 1974/11/16/pubmed PY - 1974/11/16/medline PY - 1974/11/16/entrez SP - 386 EP - 7 JF - British medical journal JO - Br Med J VL - 4 IS - 5941 N2 - We have monitored two pregnancies from families at risk for galactosaemia. The fetus was diagnosed as having galactosaemia in one and to be unaffected in the other. The accuracy of the predictions was confirmed postnatally. Assays for galactose 1-phosphate uridyl transferase involving the reduction of the coenzymes NAD or NADP are unsuitable for amniotic cells whereas estimation of (14)C-UDP-galactose produced from (14)C-galactose 1-phosphate detected the homozygous mutant fetus. SN - 0007-1447 UR - https://www.unboundmedicine.com/medline/citation/4154122/Prenatal_diagnosis_of_galactosaemia_ DB - PRIME DP - Unbound Medicine ER -