Literature DB >> 4987471

Screening for galactosemia in New York State.

S Kelly, S Katz, J Burns, J Boylan.   

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Year:  1970        PMID： 4987471      PMCID： PMC2031674     

Source DB:  PubMed          Journal:  Public Health Rep        ISSN： 0094-6214            Impact factor:   2.792


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  16 in total

1.  A study of the genetics of galactosaemia.

Authors:  V SCHWARZ; A R WELLS; A HOLZEL; G M KOMROWER
Journal:  Ann Hum Genet       Date:  1961-12       Impact factor: 1.670

2.  A simple spot screening test for galactosemia.

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

3.  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

Review 4.  Clinical variants of galactosemia.

Authors:  D Y Hsia
Journal:  Metabolism       Date:  1967-05       Impact factor: 8.694

5.  A simple chromatographic screening test for the detection of galactosemia in newborn infants.

Authors:  J C Haworth; N H Barchuk
Journal:  Pediatrics       Date:  1967-04       Impact factor: 7.124

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

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

7.  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

8.  A series of new screening procedures for pyruvate kinase deficiency, glucose-6-phosphate dehydrogenase deficiency, and glutathione reductase deficiency.

Authors:  E Beutler
Journal:  Blood       Date:  1966-10       Impact factor: 22.113

9.  Field test of galactosemia screening methods in newborn infants.

Authors:  E Beutler; H R Irwin; C M Blumenfeld; E W Goldenburg; R W Day
Journal:  JAMA       Date:  1967-02-13       Impact factor: 56.272

10.  Frequency of heterozygotes for hereditary galactosaemia in a normal population.

Authors:  N J Brandt
Journal:  Acta Genet Stat Med       Date:  1967
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  7 in total

1.  Experience of routine live-birth screening for galactosaemia in a British hospital, with emphasis on heterozygote detection.

Authors:  G Ellis; A R Wilcock; D M Goldberg
Journal:  Arch Dis Child       Date:  1972-02       Impact factor: 3.791

2.  Problems affecting the community. Population screening.

Authors:  B E Clayton
Journal:  J Clin Pathol Suppl (R Coll Pathol)       Date:  1974

3.  Phenotypes of galactosaemia in infants screened at birth.

Authors:  S Kelly; L Desjardins; P Armerding; J Burns
Journal:  J Med Genet       Date:  1973-03       Impact factor: 6.318

4.  A Duarte variant with clinical signs.

Authors:  S Kelly; L Desjardins; S A Khera
Journal:  J Med Genet       Date:  1972-03       Impact factor: 6.318

5.  Newborn screening for hereditary metabolic disorders in Manitoba, 1965-1970.

Authors:  J G Fox; D L Hall; J C Haworth; A Maniar; L Sekla
Journal:  Can Med Assoc J       Date:  1971-06-19       Impact factor: 8.262

6.  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

7.  Diversity of approaches to classic galactosemia around the world: a comparison of diagnosis, intervention, and outcomes.

Authors:  Patricia P Jumbo-Lucioni; Kathryn Garber; John Kiel; Ivo Baric; Gerard T Berry; Annet Bosch; Alberto Burlina; Ana Chiesa; Maria Luz Couce Pico; Sylvia C Estrada; Howard Henderson; Nancy Leslie; Nicola Longo; Andrew A M Morris; Carlett Ramirez-Farias; Susanne Schweitzer-Krantz; Susanne Scheweitzer-Krantz; Catherine Lynn T Silao; Marcela Vela-Amieva; Susan Waisbren; Judith L Fridovich-Keil
Journal:  J Inherit Metab Dis       Date:  2012-03-27       Impact factor: 4.982
  7 in total

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