Brain function in classic galactosemia, a galactosemia network (GalNet) members review

Brain function in classic galactosemia, a galactosemia network (GalNet) members review

Classic galactosemia (CG, OMIM #230400, ORPHA: 79,239) is a hereditary disorder of galactose metabolism that, despite treatment with galactose restriction, affects brain function in 85% of the patients. Problems with cognitive function, neuropsychological/social emotional difficulties, neurological...

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Main Authors: Bianca Panis, E. Naomi Vos, Ivo Barić, Annet M. Bosch, Martijn C. G. J. Brouwers, Alberto Burlina, David Cassiman, David J. Coman, María L. Couce, Anibh M. Das, Didem Demirbas, Aurélie Empain, Matthias Gautschi, Olga Grafakou, Stephanie Grunewald, Sandra D. K. Kingma, Ina Knerr, Elisa Leão-Teles, Dorothea Möslinger, Elaine Murphy, Katrin Õunap, Adriana Pané, Sabrina Paci, Rossella Parini, Isabel A. Rivera, Sabine Scholl-Bürgi, Ida V. D. Schwartz, Triantafyllia Sdogou, Loai A. Shakerdi, Anastasia Skouma, Karolina M. Stepien, Eileen P. Treacy, Susan Waisbren, Gerard T. Berry, M. Estela Rubio-Gozalbo
Format: Article
Language:English
Published: Frontiers Media S.A. 2024-02-01
Series:Frontiers in Genetics
Subjects:
classic galactosemia
brain
galactose
cognitive problems
neurodevelopment
movement disorders
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2024.1355962/full

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https://www.frontiersin.org/articles/10.3389/fgene.2024.1355962/full

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