Literature DB >> 12927432

A woman with untreated galactosaemia.

Philip J Lee1, Margaret Lilburn, Udo Wendel, Peter Schadewaldt.   

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Year:  2003        PMID： 12927432     DOI： 10.1016/S0140-6736(03)14070-6

Source DB:  PubMed          Journal:  Lancet        ISSN： 0140-6736            Impact factor:   79.321


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  9 in total

1.  Classical Galactosaemia in Ireland: incidence, complications and outcomes of treatment.

Authors:  K P Coss; P P Doran; C Owoeye; M B Codd; N Hamid; P D Mayne; E Crushell; I Knerr; A A Monavari; E P Treacy
Journal:  J Inherit Metab Dis       Date:  2012-07-03       Impact factor: 4.982

Review 2.  Classical galactosaemia revisited.

Authors:  Annet M Bosch
Journal:  J Inherit Metab Dis       Date:  2006-07-11       Impact factor: 4.982

3.  Rigor of non-dairy galactose restriction in early childhood, measured by retrospective survey, does not associate with severity of five long-term outcomes quantified in 231 children and adults with classic galactosemia.

Authors:  Allison B Frederick; David J Cutler; Judith L Fridovich-Keil
Journal:  J Inherit Metab Dis       Date:  2017-07-10       Impact factor: 4.982

4.  Diversity of approaches to classic galactosemia around the world: a comparison of diagnosis, intervention, and outcomes.

Authors:  Patricia P Jumbo-Lucioni; Kathryn Garber; John Kiel; Ivo Baric; Gerard T Berry; Annet Bosch; Alberto Burlina; Ana Chiesa; Maria Luz Couce Pico; Sylvia C Estrada; Howard Henderson; Nancy Leslie; Nicola Longo; Andrew A M Morris; Carlett Ramirez-Farias; Susanne Schweitzer-Krantz; Susanne Scheweitzer-Krantz; Catherine Lynn T Silao; Marcela Vela-Amieva; Susan Waisbren; Judith L Fridovich-Keil
Journal:  J Inherit Metab Dis       Date:  2012-03-27       Impact factor: 4.982

5.  Komrower lecture: Treatment of inborn errors of metabolism: a review.

Authors:  J V Leonard
Journal:  J Inherit Metab Dis       Date:  2006 Apr-Jun       Impact factor: 4.982

6.  Classical Galactosaemia and CDG, the N-Glycosylation Interface. A Review.

Authors:  Ashwini Maratha; Hugh-Owen Colhoun; Ina Knerr; Karen P Coss; Peter Doran; Eileen P Treacy
Journal:  JIMD Rep       Date:  2016-08-09

7.  Effects of temporary low-dose galactose supplements in children aged 5-12 y with classical galactosemia: a pilot study.

Authors:  Ina Knerr; Karen Patricia Coss; Jürgen Kratzsch; Ellen Crushell; Anne Clark; Peter Doran; Yoon Shin; Henning Stöckmann; Pauline Mary Rudd; Eileen Treacy
Journal:  Pediatr Res       Date:  2015-06-08       Impact factor: 3.756

8.  Classic galactosemia: dietary dilemmas.

Authors:  Annet M Bosch
Journal:  J Inherit Metab Dis       Date:  2010-07-13       Impact factor: 4.982

9.  Abnormal N-glycan fucosylation, galactosylation, and sialylation of IgG in adults with classical galactosemia, influence of dietary galactose intake.

Authors:  Eileen P Treacy; Sebastian Vencken; Annet M Bosch; Matthias Gautschi; Estela Rubio-Gozalbo; Charlotte Dawson; Darragh Nerney; Hugh Owen Colhoun; Loai Shakerdi; Gregory M Pastores; Roisin O'Flaherty; Radka Saldova
Journal:  JIMD Rep       Date:  2021-07-22
  9 in total

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