Literature DB >> 5063514

A Duarte variant with clinical signs.

S Kelly, L Desjardins, S A Khera.   

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Year:  1972        PMID: 5063514      PMCID: PMC1469211          DOI: 10.1136/jmg.9.1.129

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


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  9 in total

1.  A NEW GENETIC ABNORMALITY RESULTING IN GALACTOSE-1-PHOSPHATE URIDYLTRANSFERASE DEFICIENCY.

Authors:  E BEUTLER; M C BALUDA; P STURGEON; R DAY
Journal:  Lancet       Date:  1965-02-13       Impact factor: 79.321

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

4.  Unstable galactose-1-phosphate uridyl transferase: a new variant of galactosemia.

Authors:  C M Chacko; J C Christian; H L Nadler
Journal:  J Pediatr       Date:  1971-03       Impact factor: 4.406

5.  Electrophoretic abnormality of galactose-1-phosphate uridyl transferase in galactosemia.

Authors:  F Schapira; J C Kaplan
Journal:  Biochem Biophys Res Commun       Date:  1969-05-22       Impact factor: 3.575

6.  Partial galactose-1-phosphate uridyltransferase deficiency due to a variant enzyme.

Authors:  R Gitzelmann; J R Poley; A Prader
Journal:  Helv Paediatr Acta       Date:  1967-07

7.  Screening for galactosemia in New York State.

Authors:  S Kelly; S Katz; J Burns; J Boylan
Journal:  Public Health Rep       Date:  1970-07       Impact factor: 2.792

8.  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

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

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

  9 in total
  3 in total

1.  Phenotypic diversity of human diseases resulting from allelic series.

Authors:  V A McKusick
Journal:  Am J Hum Genet       Date:  1973-07       Impact factor: 11.025

2.  Uridine monophosphate kinase: A new genetic polymorphism with possible clinical implications.

Authors:  E R Giblett; J E Anderson; S H Chen; Y S Teng; F Cohen
Journal:  Am J Hum Genet       Date:  1974-09       Impact factor: 11.025

3.  '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

  3 in total

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