prikaz prve stranice dokumenta Brain function in classic galactosemia, a galactosemia network (GalNet) members review
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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 Više autora...

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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, i sur.. Brain function in classic galactosemia, a galactosemia network (GalNet) members review. Frontiers in Genetics [Internet]. 15.02.2024. [pristupljeno 23.01.2025.];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, Veljača 2024. [Online]. Dostupno na: https://urn.nsk.hr/urn:nbn:hr:105:926559. [Citirano: 23.01.2025.]

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Naslov (engleski)Brain function in classic galactosemia, a galactosemia network (GalNet) members review
AutorBianca Panis
AutorE. Naomi Vos
AutorIvo Barić
AutorAnnet M. Bosch
AutorMartijn C. G. J. Brouwers
AutorAlberto Burlina
AutorDavid Cassiman
AutorDavid J. Coman
AutorMaría L. Couce
AutorAnibh M. Das
AutorDidem Demirbas
AutorAurélie Empain
AutorMatthias Gautschi
AutorOlga Grafakou
AutorStephanie Grunewald
AutorSandra D. K. Kingma
AutorIna Knerr
AutorElisa Leão-Teles
AutorDorothea Möslinger
AutorElaine Murphy
AutorKatrin Õunap
AutorAdriana Pané
AutorSabrina Paci
AutorRossella Parini
AutorIsabel A. Rivera
AutorSabine Scholl-Bürgi
AutorIda V. D. Schwartz
AutorTriantafyllia Sdogou
AutorLoai A. Shakerdi
AutorAnastasia Skouma
AutorKarolina M. Stepien
AutorEileen P. Treacy
AutorSusan Waisbren
AutorGerard T. Berry
AutorM. Estela Rubio-Gozalbo
Autorova ustanovaSveučilište u Zagrebu
Medicinski fakultet
(KATEDRA ZA PEDIJATRIJU)
Znanstveno / umjetničko
područje, polje i grana		BIOMEDICINA I ZDRAVSTVO
Kliničke medicinske znanosti
Pedijatrija
Sažetak (engleski)
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.
Ključne riječi (engleski)
Jezikengleski
Vrsta publikacijeZnanstveni rad - Pregledni rad
Status objaveObjavljen
Vrsta recenzijeRecenziran
Verzija publikacijeObjavljena verzija rada (izdavačev PDF)
Naslov časopisaFrontiers in Genetics
Brojčani podacivol. 15, 1355962
e-ISSN1664-8021
DOIhttps://doi.org/10.3389/fgene.2024.1355962
URN:NBNurn:nbn:hr:105:926559
Datum objave publikacije2024-02-15
URL dokumentahttps://www.frontiersin.org/articles/10.3389/fgene.2024.1355962/full
Vrsta resursaTekst
Prava pristupaOtvoreni pristup
Uvjeti korištenjaIkona licence Imenovanje 4.0 međunarodna (CC BY 4.0)
Datum i vrijeme pohrane2024-11-11 08:48:08