Literature DB >> 4644860

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

R Gitzelmann.   

Abstract

Entities:  

Mesh：

Substances：

Year:  1972        PMID： 4644860

Source DB:  PubMed          Journal:  Helv Paediatr Acta        ISSN： 0018-022X


× No keyword cloud information.
  18 in total

1.  UDPgalactose epimerase in lens and fibroblasts: activity expression in patients with cataracts and mental retardation.

Authors:  Y S Shin; G C Korenke; P Huppke; I Knerr; T Podskarbi
Journal:  J Inherit Metab Dis       Date:  2000-06       Impact factor: 4.982

2.  Generalized epimerase deficiency galactosemia.

Authors:  Mihir Sarkar; Some Suvra Bose; Gobinda Mondal; Sukanta Chatterjee
Journal:  Indian J Pediatr       Date:  2010-08-20       Impact factor: 1.967

3.  Characterization of two mutations associated with epimerase-deficiency galactosemia, by use of a yeast expression system for human UDP-galactose-4-epimerase.

Authors:  B B Quimby; A Alano; S Almashanu; A M DeSandro; T M Cowan; J L Fridovich-Keil
Journal:  Am J Hum Genet       Date:  1997-09       Impact factor: 11.025

4.  Galactose Epimerase Deficiency: Expanding the Phenotype.

Authors:  Filipa Dias Costa; Sacha Ferdinandusse; Carla Pinto; Andrea Dias; Liesbeth Keldermans; Dulce Quelhas; Gert Matthijs; Petra A Mooijer; Luísa Diogo; Jaak Jaeken; Paula Garcia
Journal:  JIMD Rep       Date:  2017-03-01

5.  Richard Gitzelmann (23rd February 1930--31st October 2013).

Authors:  Beat Steinmann
Journal:  Eur J Pediatr       Date:  2014-04-27       Impact factor: 3.183

6.  Reversal of UDP-galactose 4-epimerase deficiency of human leukocytes in culture.

Authors:  B Mitchell; E Haigis; B Steinmann; R Gitzelmann
Journal:  Proc Natl Acad Sci U S A       Date:  1975-12       Impact factor: 11.205

7.  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

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

Authors:  K H Schulpis; H Michelakakis; E Charokopos; E Papakonstantinou; J Messaritakis; Y Shin
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

9.  Molecular characterization of a unique patient with epimerase-deficiency galactosaemia.

Authors:  A Alano; S Almashanu; J M Chinsky; P Costeas; M G Blitzer; E A Wulfsberg; T M Cowan
Journal:  J Inherit Metab Dis       Date:  1998-06       Impact factor: 4.982

10.  Galactose intolerance and the risk of cataract.

Authors:  A F Winder; P Fells; R B Jones; R D Kissun; I S Menzies; J N Mount
Journal:  Br J Ophthalmol       Date:  1982-07       Impact factor: 4.638
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.