Literature DB >> 4149512

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

E Beutler.   

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Year:  1973        PMID： 4149512

Source DB:  PubMed          Journal:  Isr J Med Sci        ISSN： 0021-2180


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  10 in total

1.  Galactosaemia: estimated live birth incidence in New Zealand.

Authors:  I C Lyon; C J Chapman; I B Houston; A M Veale
Journal:  Humangenetik       Date:  1975-05-26

2.  Molecular basis for Duarte and Los Angeles variant galactosemia.

Authors:  S D Langley; K Lai; P P Dembure; L N Hjelm; L J Elsas
Journal:  Am J Hum Genet       Date:  1997-02       Impact factor: 11.025

3.  Variants of galactose-1-phosphate uridyl transferase in the Greek populations.

Authors:  A Thomakos; E Beutler; G Stamatoyannopoulos
Journal:  Hum Genet       Date:  1977-05-10       Impact factor: 4.132

4.  Human erythrocyte galactokinase and galactose-1-phosphate uridylyltransferase: a population survey.

Authors:  T A Tedesco; K L Miller; B E Rawnsley; M T Mennuti; R S Spielman; W J Mellman
Journal:  Am J Hum Genet       Date:  1975-11       Impact factor: 11.025

5.  'Durate variant with clinical signs' has alpha1 -antitrypsin genotype ZZ.

Authors:  L R Weitkamp; J W Sayre; R H Schwartz; R Doherty; S A Khera
Journal:  J Med Genet       Date:  1976-02       Impact factor: 6.318

6.  On the population genetics of phenylketonuria in the G.D.R.

Authors:  G Machill; A Knapp
Journal:  Hum Genet       Date:  1976-01-28       Impact factor: 4.132

7.  A common mutation associated with the Duarte galactosemia allele.

Authors:  L J Elsas; P P Dembure; S Langley; E M Paulk; L N Hjelm; J Fridovich-Keil
Journal:  Am J Hum Genet       Date:  1994-06       Impact factor: 11.025

8.  A molecular approach to galactosemia.

Authors:  L J Elsas; S Langley; E M Paulk; L N Hjelm; P P Dembure
Journal:  Eur J Pediatr       Date:  1995       Impact factor: 3.183

Review 9.  Partial deficiency of galactose-1-phosphate uridyltransferase.

Authors:  R Gitzelmann; N U Bosshard
Journal:  Eur J Pediatr       Date:  1995       Impact factor: 3.183

10.  Galactosemia: a strategy to identify new biochemical phenotypes and molecular genotypes.

Authors:  L J Elsas; S Langley; E Steele; J Evinger; J L Fridovich-Keil; A Brown; R Singh; P Fernhoff; L N Hjelm; P P Dembure
Journal:  Am J Hum Genet       Date:  1995-03       Impact factor: 11.025
  10 in total

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