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Journal of Inherited Metabolic Disease|September 12, 2022
A multinational study of acute and long-term outcomes of Type 1 galactosemia patients who carry the S135L (c.404C > T) variant of GALTQuinton S Katler, Karolina M Stepien, Nathan Paull, et al.
Frontiers in Genetics|March 1, 2024
Brain function in classic galactosemia, a galactosemia network (GalNet) members reviewBianca Panis, E Naomi Vos, Ivo Barić, et al.
The Journal of Clinical Investigation|March 28, 2023
CERT1 mutations perturb human development by disrupting sphingolipid homeostasisCharlotte Gehin, Museer A Lone, Winston Lee, et al.
Brain : a Journal of Neurology|November 15, 2025
The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiencyKajus Merkevicius, Dmitrii Smirnov, Lea D Schlieben, et al.
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