Bosch AM, Ijlst L, Oostheim W, Mulders J, Bakker HD, Wijburg FA, Wanders RJ, Waterham HR
Identification of novel mutations in classical galactosemia.
Hum Mutat. 2005;25(5):502. PubMed Abstract /Full Text
Report of the mutational spectrum of classical galactosemia in a cohort of 123 Dutch patients, all with biochemically proven classical galactosemia.