Literature DB >> 4926707

Galactosemia screening of newborns in Massachusetts.

V E Shih, H I Levy, V Karolkewicz, S Houghton, M L Efron, K J Isselbacher, E Beutler, R A MacCready.   

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Year:  1971        PMID： 4926707     DOI： 10.1056/NEJM197104082841404

Source DB:  PubMed          Journal:  N Engl J Med        ISSN： 0028-4793            Impact factor:   91.245


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  9 in total

1.  Incidence and features of galactosaemia in Saudi Arabs.

Authors:  H Moammar; R Ratard; G Cheriyan; P Mathew
Journal:  J Inherit Metab Dis       Date:  1996       Impact factor: 4.982

2.  Prospective ascertainment of complete and partial serum biotinidase deficiency in the newborn.

Authors:  G Dunkel; C R Scriver; C L Clow; S Melançon; B Lemieux; A Grenier; C Laberge
Journal:  J Inherit Metab Dis       Date:  1989       Impact factor: 4.982

3.  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

4.  Blood cells as markers for metabolic disorders.

Authors:  E Beutler
Journal:  Blut       Date:  1985-12

5.  Problems affecting the community. Population screening.

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

6.  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

7.  Diagnosis of classical galactosaemia.

Authors:  A M Monk; A J Mitchell; D W Milligan; J B Holton
Journal:  Arch Dis Child       Date:  1977-12       Impact factor: 3.791

8.  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

9.  Analysis of common mutations in the galactose-1-phosphate uridyl transferase gene: new assays to increase the sensitivity and specificity of newborn screening for galactosemia.

Authors:  Steven F Dobrowolski; Richard A Banas; Joseph G Suzow; Michelle Berkley; Edwin W Naylor
Journal:  J Mol Diagn       Date:  2003-02       Impact factor: 5.568
  9 in total

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