1. Fridovich-Keil J, Walter J (2008) Galactosemia. In: Valle D, Beaudet A, Vogelstein B (eds) The online metabolic & molecular bases of inherited disease. McGraw Hill. http://www.ommbid.com/
2. Berry GT (1993–2020) Classic galactosemia and clinical variant galactosemia. 2000 Feb 4 [updated 2020 Jul 2]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, LJH B, Stephens K, Amemiya A (eds) GeneReviews® [Internet]. University of Washington, Seattle. PMID: 20301691
3. Fridovich-Keil J, Bean L, He M et al (1993–2020) Epimerase deficiency galactosemia. 2011 Jan 25 [Updated 2016 Jun 16]. In: Adam MP, Ardinger HH, Pagon RA et al (eds) GeneReviews® [Internet]. University of Washington, Seattle. Available from: https://www.ncbi.nlm.nih.gov/books/NBK51671/
4. Dias Costa F, Ferdinandusse S, Pinto C et al (2017) Galactose epimerase deficiency: expanding the phenotype. JIMD Rep 37:19–25. https://doi.org/10.1007/8904_2017_10
5. Seo A, Gulsuner S, Pierce S et al (2019) Inherited thrombocytopenia associated with mutation of UDP-galactose-4-epimerase (GALE). Hum Mol Genet 28(1):133–142. https://doi.org/10.1093/hmg/ddy334