prikaz prve stranice dokumenta Brain function in classic galactosemia, a galactosemia network (GalNet) members review
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Scientific paper - Review paper
Brain function in classic galactosemia, a galactosemia network (GalNet) members review
Frontiers in Genetics, 15 (2024); 1355962. https://doi.org/10.3389/fgene.2024.1355962
Panis, Bianca; Vos, E. Naomi; Barić, Ivo; Bosch, Annet M.; Brouwers, Martijn C. G. J.; Burlina, Alberto; Cassiman, David; Coman, David J.; Couce, María L.; Das, Anibh M.; Demirbas, Didem; Empain, Aurélie; Gautschi, Matthias; Grafakou, Olga; Grunewald, Stephanie; Kingma, Sandra D. K.; Knerr, Ina; Leão-Teles, Elisa; Möslinger, Dorothea; Murphy, Elaine; Õunap, Katrin; Pané, Adriana; Paci, Sabrina; Parini, Rossella; Rivera, Isabel A.; Scholl-Bürgi, Sabine; Schwartz, Ida V. D.; Sdogou, Triantafyllia; Shakerdi, Loai A.; Skouma, Anastasia; Stepien, Karolina M.; Treacy, Eileen P.; Waisbren, Susan; Berry, Gerard T.; Rubio-Gozalbo, M. Estela More authors...

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Panis, B., Vos, E. N., Barić, I., Bosch, A. M., Brouwers, M. C. G. J., Burlina, A. ... Rubio Gozalbo, M. E. (2024). Brain function in classic galactosemia, a galactosemia network (GalNet) members review. Frontiers in Genetics, 15.. doi: 10.3389/fgene.2024.1355962

Panis, Bianca, et al. "Brain function in classic galactosemia, a galactosemia network (GalNet) members review." Frontiers in Genetics, vol. 15, 2024. https://doi.org/10.3389/fgene.2024.1355962

Panis, Bianca, E. Naomi Vos, Ivo Barić, Annet M. Bosch, Martijn C. G. J. Brouwers, Alberto Burlina, David Cassiman, et al. "Brain function in classic galactosemia, a galactosemia network (GalNet) members review." Frontiers in Genetics 15 (2024). https://doi.org/10.3389/fgene.2024.1355962

Panis, B., et al. (2024) 'Brain function in classic galactosemia, a galactosemia network (GalNet) members review', Frontiers in Genetics, 15. doi: 10.3389/fgene.2024.1355962

Panis B, Vos EN, Barić I, Bosch AM, Brouwers MCGJ, Burlina A, and sur.. Brain function in classic galactosemia, a galactosemia network (GalNet) members review. Frontiers in Genetics [Internet]. 2024 February 15 [cited 2024 November 23];15. doi: 10.3389/fgene.2024.1355962

B. Panis, et al., "Brain function in classic galactosemia, a galactosemia network (GalNet) members review", Frontiers in Genetics, vol. 15, February 2024. [Online]. Available at: https://urn.nsk.hr/urn:nbn:hr:105:926559. [Accessed: 23 November 2024]

Metadata
Title (english)Brain function in classic galactosemia, a galactosemia network (GalNet) members review
AuthorBianca Panis
AuthorE. Naomi Vos
AuthorIvo Barić
AuthorAnnet M. Bosch
AuthorMartijn C. G. J. Brouwers
AuthorAlberto Burlina
AuthorDavid Cassiman
AuthorDavid J. Coman
AuthorMaría L. Couce
AuthorAnibh M. Das
AuthorDidem Demirbas
AuthorAurélie Empain
AuthorMatthias Gautschi
AuthorOlga Grafakou
AuthorStephanie Grunewald
AuthorSandra D. K. Kingma
AuthorIna Knerr
AuthorElisa Leão-Teles
AuthorDorothea Möslinger
AuthorElaine Murphy
AuthorKatrin Õunap
AuthorAdriana Pané
AuthorSabrina Paci
AuthorRossella Parini
AuthorIsabel A. Rivera
AuthorSabine Scholl-Bürgi
AuthorIda V. D. Schwartz
AuthorTriantafyllia Sdogou
AuthorLoai A. Shakerdi
AuthorAnastasia Skouma
AuthorKarolina M. Stepien
AuthorEileen P. Treacy
AuthorSusan Waisbren
AuthorGerard T. Berry
AuthorM. Estela Rubio-Gozalbo
Author's institutionUniversity of Zagreb
School of Medicine
(Department of Pediatrics)
Scientific / art field,
discipline and subdiscipline		BIOMEDICINE AND HEALTHCARE
Clinical Medical Sciences
Pediatrics
Abstract (english)
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 symptoms, and abnormalities in neuroimaging and electrophysiological assessments are frequently reported in this group of patients, with an enormous individual variability. In this review, we describe the role of impaired galactose metabolism on brain dysfunction based on state of the art knowledge. Several proposed disease mechanisms are discussed, as well as the time of damage and potential treatment options. Furthermore, we combine data from longitudinal, cross-sectional and retrospective studies with the observations of specialist teams treating this disease to depict the brain disease course over time. Based on current data and insights, the majority of patients do not exhibit cognitive decline. A subset of patients, often with early onset cerebral and cerebellar volume loss, can nevertheless experience neurological worsening. While a large number of patients with CG suffer from anxiety and depression, the increased complaints about memory loss, anxiety and depression at an older age are likely multifactorial in origin.
Keywords (english)
Languageenglish
Publication typeScientific paper - Review paper
Publication statusPublished
Peer reviewPeer review
Publication versionPublished version
Journal titleFrontiers in Genetics
Numberingvol. 15, 1355962
e-ISSN1664-8021
DOIhttps://doi.org/10.3389/fgene.2024.1355962
URN:NBNurn:nbn:hr:105:926559
Publication2024-02-15
Document URLhttps://www.frontiersin.org/articles/10.3389/fgene.2024.1355962/full
Type of resourceText
Access conditionsOpen access
Terms of useLicence Attribution 4.0 International (CC BY 4.0) icon
Created on2024-11-11 08:48:08