Literature DB >> 4154122

Prenatal diagnosis of galactosaemia.

A H Fensom, P F Benson, S Blunt.   

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.

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Year:  1974        PMID： 4154122      PMCID： PMC1612460          DOI： 10.1136/bmj.4.5941.386

Source DB:  PubMed          Journal:  Br Med J        ISSN： 0007-1447


  8 in total

1.  A specific enzymatic assay for the diagnosis of congenital galactosemia. I. The consumption test.

Authors:  E P ANDERSON; H M KALCKAR; K KURAHASHI; K J ISSELBACHER
Journal:  J Lab Clin Med       Date:  1957-09

2.  Protein measurement with the Folin phenol reagent.

Authors:  O H LOWRY; N J ROSEBROUGH; A L FARR; R J RANDALL
Journal:  J Biol Chem       Date:  1951-11       Impact factor: 5.157

3.  Antenatal detection of hereditary disorders.

Authors:  H L Nadler
Journal:  Pediatrics       Date:  1968-12       Impact factor: 7.124

4.  Improved transferase assay for cultured fibroblasts.

Authors:  J D Russell
Journal:  Biochem Genet       Date:  1968-01       Impact factor: 1.890

5.  Long-term follow-up of galactosaemia.

Authors:  G M Komrower; D H Lee
Journal:  Arch Dis Child       Date:  1970-06       Impact factor: 3.791

6.  UDP-glucose: alpha-D-galactose-1-phosphate uridylytransferase activity in cultured human fibroblasts.

Authors:  J D Russell; R DeMars
Journal:  Biochem Genet       Date:  1967-06       Impact factor: 1.890

7.  Biochemical properties of human red cell galactose-1-phosphate uridyl transferase (UDP glucose: alpha-D-galactose-1-phosphate uridyltransferase E.C.2.7.7.12) from normal and mutant subjects.

Authors:  E Beutler; M C Baluda; A Halasz
Journal:  J Lab Clin Med       Date:  1966-06

8.  Interallelic complementation in hybrid cells derived from human diploid strains deficient in galactose-1-phosphate uridyl transferase activity.

Authors:  H L Nadler; C M Chacko; M Rachmeler
Journal:  Proc Natl Acad Sci U S A       Date:  1970-10       Impact factor: 11.205
  8 in total
  5 in total

1.  Amniotic cell 4-methylumbelliferyl-alpha-glucosidase activity for prenatal diagnosis of Pompe's disease.

Authors:  A H Fensom; P F Benson; S Blunt; S P Brown; T M Coltart
Journal:  J Med Genet       Date:  1976-04       Impact factor: 6.318

2.  Sixteen years' experience of counselling, diagnosis, and prenatal detection in one genetic centre: progress, results, and problems.

Authors:  P E Polani; E Alberman; B J Alexander; P F Benson; A C Berry; S Blunt; M G Daker; A H Fensom; D M Garrett; V M McGuire; J A Roberts; M J Seller; J D Singer
Journal:  J Med Genet       Date:  1979-06       Impact factor: 6.318

3.  Characteristics of galactokinase and galactose-1-phosphate uridyltransferase in cultivated fibroblasts and amniotic fluid cells.

Authors:  Y Shin-Buehring; H Leitner; H Henseleit; A Wirtz; B Haas; J Schaub
Journal:  Hum Genet       Date:  1979-04-17       Impact factor: 4.132

4.  Prenatal diagnosis of a galactosaemia heterozygote by fetal blood enzyme assay.

Authors:  A H Fensom; P F Benson; C H Rodeck; S Campbell; J D Gould
Journal:  Br Med J       Date:  1979-01-06

5.  Prenatal and postnatal diagnostic difficulties in a family with rare alleles of the galactose-1-phosphate uridyl transferase locus.

Authors:  E Christensen; N J Brandt
Journal:  J Inherit Metab Dis       Date:  1978       Impact factor: 4.982
  5 in total

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