Associated Papers
Clinical and Developmental Outcomes After 50 Years of Newborn Bloodspot Screening for Classical Galactosaemia in the Republic of Ireland.
Pereira D et al.
Jimd Reports, 2025
A case report of classic galactosemia with a GALT gene variant and a literature review.
Wang YC et al.
Bmc Pediatrics, 2024
The genetic basis of classical galactosaemia in Polish patients.
Jezela-Stanek A et al.
Orphanet Journal of Rare Diseases, 2021
Pilot study of expanded carrier screening for 11 recessive diseases in China: results from 10,476 ethnically diverse couples.
Zhao S et al.
European Journal of Human Genetics : Ejhg, 2019
30275481 (PubMed )
Supplement: 41431_2018_253_MOESM10_ESM.xlsx › Sheet1
Mutational analysis of the GALT gene in Filipino patients.
Estrada SC et al.
The Kobe Journal of Medical Sciences, 2013
Mutation spectrum in the French cohort of galactosemic patients and structural simulation of 27 novel missense variations.
Boutron A et al.
Molecular Genetics and Metabolism, 2012
Ovarian tissue cryopreservation and subsequent spontaneous pregnancies in a patient with classic galactosemia.
Forges T et al.
Fertility and Sterility, 2011
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