المؤلفون: Britt Delnoy, Ana I. Coelho, Maria Estela Rubio-Gozalbo

المصدر: Journal of Personalized Medicine, Vol 11, Iss 2, p 75 (2021)

مصطلحات موضوعية: galactosemia type 1, classic galactosemia, galactose 1-phosphate uridylyltransferase (GALT), gene therapy, mRNA therapy, pharmacological chaperones, Medicine

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2075-4426/11/2/75; https://doaj.org/toc/2075-4426

URL الوصول: https://doaj.org/article/1eb7fe0382214cd8a2c653c4bc24d647

المؤلفون: Britt Delnoy, Minela Haskovic, Jo Vanoevelen, Laura K. M. Steinbusch, Esther Naomi Vos, Kèvin Knoops, Luc J. I. Zimmermann, Marek Noga, Dirk J. Lefeber, Paolo G. V. Martini, Ana I. Coelho, Maria Estela Rubio‐Gozalbo

المساهمون: Kindergeneeskunde, RS: GROW - R4 - Reproductive and Perinatal Medicine, MUMC+: DA KG Lab Centraal Lab (9), Klinische Genetica, MUMC+: DA KG Lab Specialisten (9), RS: M4I - Nanoscopy, Institute of Nanoscopy (IoN), Microscopy CORE Lab, MUMC+: MA Niet Med Staf Onderz Beh Kindergeneeskunde (9), MUMC+: MA Medische Staf Kindergeneeskunde (9)

المصدر: Journal of Inherited Metabolic Disease, 45, 748-758
Journal of Inherited Metabolic Disease, 45(4), 748-758. Wiley
Journal of Inherited Metabolic Disease, 45, 4, pp. 748-758

مصطلحات موضوعية: Galactosemias, therapy, mRNA, Infant, Newborn, Galactose, classic galactosemia, lipid nanoparticles, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], zebrafish, Nucleotidyltransferases, GENE, VASCULAR LIPID-ACCUMULATION, DELIVERY, Liposomes, Genetics, NANOPARTICLES, Animals, Humans, UTP-Hexose-1-Phosphate Uridylyltransferase, GALT, Female, RNA, Messenger, URIDYLYLTRANSFERASE, MUTATION, Genetics (clinical)

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::52e2f4c19e9e2710f907c35fdb0be565
http://hdl.handle.net/2066/282590

المؤلفون: M. E. Rubio-Gozalbo, Ana I. Coelho, Britt Delnoy

المصدر: Journal of Personalized Medicine
Journal of Personalized Medicine, Vol 11, Iss 75, p 75 (2021)

مصطلحات موضوعية: Standard of care, lcsh:Medicine, Medicine (miscellaneous), classic galactosemia, Galactose Metabolism, Review, Bioinformatics, galactosemia type 1, pharmacological chaperones, 03 medical and health sciences, 0302 clinical medicine, medicine, GalT activity, galactose 1-phosphate uridylyltransferase (GALT), 030304 developmental biology, 0303 health sciences, business.industry, lcsh:R, Galactosemia, mRNA therapy, medicine.disease, gene therapy, Babble Boot Camp (BBC), business, transcranial alternating current stimulation (tACS), 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::021092d2556f670a0866200eed2fc26e
https://pubmed.ncbi.nlm.nih.gov/33525536