Literature DB >> 5082089

[A family with galactosemia and "Duarte variant"].

G Haschemian, F Menne.   

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Year:  1972        PMID: 5082089     DOI: 10.1007/bf00702355

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


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  8 in total

1.  ESTIMATION OF FREQUENCY OF OCCURRENCE OF GALACTOSEMIA IN THE POPULATION.

Authors:  R G HANSEN; R K BRETTHAUER; J MAYES; J H NORDIN
Journal:  Proc Soc Exp Biol Med       Date:  1964-02

2.  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

3.  [Austrian programm for the early detection of inborn errors of metabolism].

Authors:  O Thalhammer; S Scheibenreiter; E Biedl
Journal:  Wien Klin Wochenschr       Date:  1970-01-02       Impact factor: 1.704

4.  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

5.  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

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.  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

  8 in total
  1 in total

1.  [A case of atypical galactosemia(author's transl)].

Authors:  D Matz; J Enzenauer; F Menne
Journal:  Humangenetik       Date:  1975
  1 in total

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