Literature DB >> 8127065

UDP-galactose-4-epimerase in a boy with a trisomy 21.

K H Schulpis1, H Michelakakis, E Charokopos, E Papakonstantinou, J Messaritakis, Y Shin.   

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Year:  1993        PMID： 8127065     DOI： 10.1007/bf00711534

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  3 in total

1.  Deficiency of uridine diphosphate galactose 4-epimerase in blood cells of an apparently healthy infant. Preliminary communication.

Authors:  R Gitzelmann
Journal:  Helv Paediatr Acta       Date:  1972-06

2.  A patient with severe type of epimerase deficiency galactosaemia.

Authors:  I B Sardharwalla; J E Wraith; C Bridge; B Fowler; S A Roberts
Journal:  J Inherit Metab Dis       Date:  1988       Impact factor: 4.982

3.  Galactosaemia: a new severe variant due to uridine diphosphate galactose-4-epimerase deficiency.

Authors:  J B Holton; M G Gillett; R MacFaul; R Young
Journal:  Arch Dis Child       Date:  1981-11       Impact factor: 3.791
  3 in total

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