Literature DB >> 1150263

Galactosaemia: estimated live birth incidence in New Zealand.

I C Lyon, C J Chapman, I B Houston, A M Veale.   

Abstract

194 cord blood samples were studied in both a fluorimetric assay and an electrophoresis method for Gal-1-PUT. From this the expected live birth incidence was 1:37000. The New Zealand neonatal screening programme has detected 5 cases in 223326 live births--an apparent incidence of 1:44600. The Beutler testing of dried blood spots collected on filter paper cards is a satisfactory method of detecting galactosaemia in the neonate.

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Year:  1975        PMID： 1150263     DOI： 10.1007/bf00272487

Source DB:  PubMed          Journal:  Humangenetik        ISSN： 0018-7348


  13 in total

1.  A simple spot screening test for galactosemia.

Authors:  E Beutler; M C Baluda
Journal:  J Lab Clin Med       Date:  1966-07

2.  Incidence of galactosemia at birth in New York State.

Authors:  S Kelly; J Burns; L Desjardins
Journal:  Am J Epidemiol       Date:  1974-01       Impact factor: 4.897

3.  A new variant of galactose-1-phosphate uridyltransferase in man: the Los Angeles variant.

Authors:  W G Bergren; G N Donnell
Journal:  Ann Hum Genet       Date:  1973-07       Impact factor: 1.670

4.  New rapid method for the estimation of red cell galactose-1-phosphate uridyl transferase activity.

Authors:  E Beutler; M Mitchell
Journal:  J Lab Clin Med       Date:  1968-09

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.  Screening for galactosemia. Studies of the gene frequencies for galactosemia and the Duarte variant.

Authors:  E Beutler
Journal:  Isr J Med Sci       Date:  1973 Sep-Oct

7.  Improved method for measuring galactose-I-phosphate uridyl transferase activity of erythrocytes.

Authors:  E Beutler; M C Baluda
Journal:  Clin Chim Acta       Date:  1966-03       Impact factor: 3.786

8.  Galactose-1-phosphate uridyl transferase actiivity in hemolysates of newborn infants.

Authors:  W G Ng; W R Bergren; G N Donnell; J E Hodgman
Journal:  Pediatrics       Date:  1967-02       Impact factor: 7.124

9.  Electrophoretic variation of galactose-1-phosphate uridyltransferase.

Authors:  C K Mathai; E Beutler
Journal:  Science       Date:  1966-12-02       Impact factor: 47.728

10.  The genetics of galactose-1-phosphate uridyl transferase deficiency.

Authors:  E Beutler; M C Baluda; P Sturgeon; R W Day
Journal:  J Lab Clin Med       Date:  1966-10
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  1 in total

1.  In vitro galactation of human serum albumin: analysis of the protein's galactation sites by mass spectrometry.

Authors:  Leslie Frost; Muhammad Chaudhry; Tiffany Bell; Menashi Cohenford
Journal:  Anal Biochem       Date:  2010-11-26       Impact factor: 3.365
  1 in total

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