Literature DB >> 6549612

Galactosemia caused by generalized uridine diphosphate galactose-4-epimerase deficiency.

L R Garibaldi, S Canini, A Superti-Furga, G Lamedica, M Filocamo, N Marchese, C Borrone.   

Abstract

Entities:  

Mesh：

Substances：

Year:  1983        PMID： 6549612     DOI： 10.1016/s0022-3476(83)80719-7

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


× No keyword cloud information.
  4 in total

1.  Development of a protocol for newborn screening for disorders of the galactose metabolic pathway.

Authors:  F G Bowling; A R Brown
Journal:  J Inherit Metab Dis       Date:  1986       Impact factor: 4.982

2.  Generalised uridine diphosphate galactose-4-epimerase deficiency.

Authors:  J H Walter; R E Roberts; G T Besley; J E Wraith; M A Cleary; J B Holton; R MacFaul
Journal:  Arch Dis Child       Date:  1999-04       Impact factor: 3.791

3.  In vivo and in vitro function of human UDP-galactose 4'-epimerase variants.

Authors:  Thomas J McCorvie; Jamie Wasilenko; Ying Liu; Judith L Fridovich-Keil; David J Timson
Journal:  Biochimie       Date:  2011-06-17       Impact factor: 4.079

4.  Galactose epimerase deficiency: lessons from the GalNet registry.

Authors:  Britt Derks; Gerard T Berry; M Estela Rubio-Gozalbo; Didem Demirbas; Rodrigo R Arantes; Samantha Banford; Alberto B Burlina; Analía Cabrera; Ana Chiesa; M Luz Couce; Carlo Dionisi-Vici; Matthias Gautschi; Stephanie Grünewald; Eva Morava; Dorothea Möslinger; Sabine Scholl-Bürgi; Anastasia Skouma; Karolina M Stepien; David J Timson
Journal:  Orphanet J Rare Dis       Date:  2022-09-02       Impact factor: 4.303
  4 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.