Literature DB >> 8582057

HPLC analysis of uridine diphosphate sugars: decreased concentrations of uridine diphosphate galactose in erythrocytes and cultured skin fibroblasts from classical galactosemia patients.

Y K Xu1, F R Kaufman, G N Donnell, T Giudici, O Alfi, W G Ng.   

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Year:  1995        PMID： 8582057     DOI： 10.1016/0009-8981(95)06123-7

Source DB:  PubMed          Journal:  Clin Chim Acta        ISSN： 0009-8981            Impact factor:   3.786


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  4 in total

Review 1.  Galactosaemia: pathogenesis and treatment.

Authors:  J B Holton
Journal:  J Inherit Metab Dis       Date:  1996       Impact factor: 4.982

2.  Distinct roles of galactose-1P in galactose-mediated growth arrest of yeast deficient in galactose-1P uridylyltransferase (GALT) and UDP-galactose 4'-epimerase (GALE).

Authors:  Jane Odhiambo Mumma; Juliet S Chhay; Kerry L Ross; Jana S Eaton; Karen A Newell-Litwa; Judith L Fridovich-Keil
Journal:  Mol Genet Metab       Date:  2007-11-05       Impact factor: 4.797

3.  Two adult galactosaemia females with normal ovarian function and identical GALT mutations (Q188R/R333G).

Authors:  W G Ng; Y K Xu; L J Wong; F R Kaufman; N R M Buist; G N Donnell
Journal:  J Inherit Metab Dis       Date:  2003       Impact factor: 4.982

Review 4.  Pathophysiology and targets for treatment in hereditary galactosemia: A systematic review of animal and cellular models.

Authors:  Minela Haskovic; Ana I Coelho; Jörgen Bierau; Jo M Vanoevelen; Laura K M Steinbusch; Luc J I Zimmermann; Eduardo Villamor-Martinez; Gerard T Berry; M Estela Rubio-Gozalbo
Journal:  J Inherit Metab Dis       Date:  2020-01-14       Impact factor: 4.982
  4 in total

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