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Prenatal diagnosis of galactosemia.
Biomedicine. 1978 Jun; 29(4):136-8.B

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.

Authors

Schapira F
No affiliation info available
Gregori C
No affiliation info available
Boué J
No affiliation info available
Henrion R
No affiliation info available
Vigneron C
No affiliation info available
Vidailhet M
No affiliation info available

MeSH

AmniocentesisAmniotic FluidFemaleGalactosemiasHumansNucleotidyltransferasesPregnancyUTP-Hexose-1-Phosphate Uridylyltransferase

Pub Type(s)

Journal Article

Language

eng

PubMed ID

687757

Citation

Schapira, F, et al. "Prenatal Diagnosis of Galactosemia." Biomedicine / [publiee Pour L'A.A.I.C.I.G.], vol. 29, no. 4, 1978, pp. 136-8.
Schapira F, Gregori C, Boué J, et al. Prenatal diagnosis of galactosemia. Biomedicine. 1978;29(4):136-8.
Schapira, F., Gregori, C., Boué, J., Henrion, R., Vigneron, C., & Vidailhet, M. (1978). Prenatal diagnosis of galactosemia. Biomedicine / [publiee Pour L'A.A.I.C.I.G.], 29(4), 136-8.
Schapira F, et al. Prenatal Diagnosis of Galactosemia. Biomedicine. 1978;29(4):136-8. PubMed PMID: 687757.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Prenatal diagnosis of galactosemia. AU - Schapira,F, AU - Gregori,C, AU - Boué,J, AU - Henrion,R, AU - Vigneron,C, AU - Vidailhet,M, PY - 1978/6/1/pubmed PY - 1978/6/1/medline PY - 1978/6/1/entrez SP - 136 EP - 8 JF - Biomedicine / [publiee pour l'A.A.I.C.I.G.] JO - Biomedicine VL - 29 IS - 4 N2 - 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. SN - 0300-0893 UR - https://www.unboundmedicine.com/medline/citation/687757/Prenatal_diagnosis_of_galactosemia_ L2 - https://www.diseaseinfosearch.org/result/2973 DB - PRIME DP - Unbound Medicine ER -