Associated Papers
Clinical and biochemical phenotypes, genotypes, and long-term outcomes of individuals with galactosemia type I from a single metabolic genetics center in Alberta.
Almenabawy N et al.
Molecular Genetics and Metabolism Reports, 2024
Clinical and molecular characteristics and time of diagnosis of patients with classical galactosemia in an unscreened population in Turkey.
Teke Kisa P et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2019
Galactosemia: when is it a newborn screening emergency?
Berry GT
Molecular Genetics and Metabolism, 2012
In vivo evidence of brain galactitol accumulation in an infant with galactosemia and encephalopathy.
Berry GT et al.
The Journal of Pediatrics, 2001
Galactosemia: a strategy to identify new biochemical phenotypes and molecular genotypes.
Elsas LJ et al.
American Journal of Human Genetics, 1995
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