Literature DB >> 20151200

Classical galactosemia in Estonia: selective neonatal screening, incidence, and genotype/phenotype data of diagnosed patients.

Katrin Ounap, Kairit Joost, Triinu Temberg, Külliki Krabbi, Neeme Tõnisson.   

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Year:  2010        PMID： 20151200     DOI： 10.1007/s10545-010-9045-2

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  3 in total

Review 1.  Classical galactosaemia revisited.

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

2.  Mutation database for the galactose-1-phosphate uridyltransferase (GALT) gene.

Authors:  Fernanda R O Calderon; Amit R Phansalkar; David K Crockett; Martin Miller; Rong Mao
Journal:  Hum Mutat       Date:  2007-10       Impact factor: 4.878

3.  Neonatal screening in Europe; the situation in 2004.

Authors:  J Gerard Loeber
Journal:  J Inherit Metab Dis       Date:  2007-07-06       Impact factor: 4.982
  3 in total
  3 in total

Review 1.  Appropriateness of newborn screening for classic galactosaemia: a systematic review.

Authors:  L Varela-Lema; L Paz-Valinas; G Atienza-Merino; R Zubizarreta-Alberdi; R Vizoso Villares; M López-García
Journal:  J Inherit Metab Dis       Date:  2016-04-26       Impact factor: 4.982

2.  The live-birth prevalence of mucopolysaccharidoses in Estonia.

Authors:  Külliki Krabbi; Kairit Joost; Riina Zordania; Inga Talvik; Reet Rein; Jan G M Huijmans; Frans V Verheijen; Katrin Õunap
Journal:  Genet Test Mol Biomarkers       Date:  2012-04-05

3.  Systematic Review and Meta-analysis of Intelligence Quotient in Early-Treated Individuals with Classical Galactosemia.

Authors:  Lindsey Welling; Susan E Waisbren; Kevin M Antshel; Hugh-Owen Colhoun; Matthias Gautschi; Stephanie Grünewald; Rebecca Holman; Johanna H van der Lee; Eileen P Treacy; Annet M Bosch
Journal:  JIMD Rep       Date:  2017-04-09
  3 in total

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