UDPgalactose epimerase in lens and fibroblasts: Activity expression in patients with cataracts and mental retardation-Reference-Cited by-同舟云学术

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UDPgalactose epimerase in lens and fibroblasts: Activity expression in patients with cataracts and mental retardation

Published:2000-06 Issue:4 Volume:23 Page:383-386
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Shin Y. S.¹,Korenke G.-C.²,Huppke P.²,Knerr I.³,Podskarbi T.⁴

Affiliation:

1. ; Children's Hospital of University of Munich; Munich Germany

2. Children's Hospital of University of and Güttingen; Munich Germany

3. Children's Hospital of University of Erlangen; Munich Germany

4. Children's Hospital of Laboratory for Metabolism and Genetics; Munich Germany

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1023/A:1005699719068/fullpdf

Reference13 articles.

1. Molecular characterization of a unique patient with epimerase-deficiency galactosaemia;Alano;J Inherit Metab Dis,1998

2. Cataract and metabolic disease;Endres;J Inherit Metab Dis,1990

3. Deficiency of uridine diphosphate galactose-4-epimerase in blood cells of an apparently healthy infant;Gitzelmann;Helv Paediatr Acta,1972

4. Galactosaemia: a new severe variant due to uridine diphosphate galactose-4-epimerase;Holton;Arch Dis Child,1981

5. Plasma polyol levels in patients with cataracts;Jakobs;J Inherit Metab Dis,1990

Cited by 11 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Positive correlation between galactose-1-phosphate uridyltransferase (GALT) and UDP-galactose-4′-epimerase (GALE) activities;Clinical Biochemistry;2009-10

2. Relationship between UDP-Galactose 4′-Epimerase Activity and Galactose Sensitivity in Yeast;Journal of Biological Chemistry;2006-03

3. Epimerase-Deficiency Galactosemia Is Not a Binary Condition;The American Journal of Human Genetics;2006-01

4. Galactosemia: The good, the bad, and the unknown;Journal of Cellular Physiology;2006

5. Mediators of Galactose Sensitivity in UDP-Galactose 4′-Epimerase-impaired Mammalian Cells;Journal of Biological Chemistry;2005-04

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