Literature DB >> 34514047

Commentary: Galactosemia Diagnosis by Whole Exome Sequencing Later in Life.

Jennifer Friedman1,2,3, Sara Lucas-Del-Pozo4,5, David Moreno-Martinez6, Maria Camprodon-Gomez7, Daniel Moreno-Martinez8, Jorge Hernandez-Vara4,9, Manju A Kurian10.   

Abstract

Entities:  

Keywords:  Galactosemia; cerebral palsy; developmental delay

Year:  2021        PMID： 34514047      PMCID： PMC8414503          DOI： 10.1002/mdc3.13304

Source DB:  PubMed          Journal:  Mov Disord Clin Pract        ISSN： 2330-1619


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  2 in total

1.  Classical galactosaemia: novel insights in IgG N-glycosylation and N-glycan biosynthesis.

Authors:  Ashwini Maratha; Henning Stockmann; Karen P Coss; M Estela Rubio-Gozalbo; Ina Knerr; Maria Fitzgibbon; Terri P McVeigh; Patricia Foley; Catherine Moss; Hugh-Owen Colhoun; Britt van Erven; Kelly Stephens; Peter Doran; Pauline Rudd; Eileen Treacy
Journal:  Eur J Hum Genet       Date:  2016-01-06       Impact factor: 4.246

Review 2.  Sweet and sour: an update on classic galactosemia.

Authors:  Ana I Coelho; M Estela Rubio-Gozalbo; João B Vicente; Isabel Rivera
Journal:  J Inherit Metab Dis       Date:  2017-03-09       Impact factor: 4.982
  2 in total

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