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1دورية أكاديمية
المؤلفون: Randall, Jason A.Aff1, IDs41687023006352_cor1, Sutter, Carolyn, Raither, Lydia, Wang, Stella, Bailey, Evan, Perfetti, Riccardo, Shendelman, Shoshana, Burbridge, Claire
المصدر: Journal of Patient-Reported Outcomes. 7(1)
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2دورية أكاديمية
المؤلفون: Bijina Balakrishnan, Xinhua Yan, Marshall D. McCue, Olivia Bellagamba, Aaron Guo, Felicity Winkler, Jason Thall, Lisa Crawford, Rain Dimen, Sara Chen, Sean McEnaney, Yiman Wu, Mike Zimmer, Joe Sarkis, Paolo G.V. Martini, Patrick F. Finn, Kent Lai
المصدر: Molecular Therapy: Methods & Clinical Development, Vol 32, Iss 1, Pp 101191- (2024)
مصطلحات موضوعية: classic galactosemia, gene therapy, mRNA-based therapy, breath test, galactose oxidation, adeno-associated viral vectors, Genetics, QH426-470, Cytology, QH573-671
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Nihal Almenabawy, Shalini Bahl, Alyssa-Lyn Ostlund, Shailly Ghai-Jain, Iveta Sosova, Alicia Chan, Saadet Mercimek-Andrews
المصدر: Molecular Genetics and Metabolism Reports, Vol 38, Iss , Pp 101055- (2024)
مصطلحات موضوعية: Classic galactosemia, Clinical variant galactosemia, Variant Duarte galactosemia, GALT, Galactose-1-phosphate uridyltransferase, Newborn screening, Medicine (General), R5-920, Biology (General), QH301-705.5
وصف الملف: electronic resource
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4دورية أكاديمية
المؤلفون: Dulce Quelhas, Sandra D.K. Kingma, An I. Jonckheere, Claudia S. Smeets-Peels, Daniel Costa Gomes, José Duro, Anabela Oliveira, Gert Matthijs, Laura K.M. Steinbusch, Jaak Jaeken, Isabel Rivera, Estela Rubio-Gozalbo
المصدر: Molecular Genetics and Metabolism Reports, Vol 38, Iss , Pp 101057- (2024)
مصطلحات موضوعية: Classic galactosemia, Late diagnosis, Natural history, Medicine (General), R5-920, Biology (General), QH301-705.5
وصف الملف: electronic resource
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5دورية أكاديمية
المؤلفون: Jason A. Randall, Carolyn Sutter, Lydia Raither, Stella Wang, Evan Bailey, Riccardo Perfetti, Shoshana Shendelman, Claire Burbridge
المصدر: Journal of Patient-Reported Outcomes, Vol 7, Iss 1, Pp 1-13 (2023)
مصطلحات موضوعية: Classic Galactosemia, Quality of life, Qualitative, Survey, Interviews, Patient, Public aspects of medicine, RA1-1270
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2509-8020
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6دورية أكاديمية
المؤلفون: 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
المصدر: Frontiers in Genetics, Vol 15 (2024)
مصطلحات موضوعية: classic galactosemia, brain, galactose, cognitive problems, neurodevelopment, movement disorders, Genetics, QH426-470
وصف الملف: electronic resource
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7دورية أكاديمية
المؤلفون: Giovanna Forte, Antonia Lucia Buonadonna, Antonino Pantaleo, Candida Fasano, Donatella Capodiferro, Valentina Grossi, Paola Sanese, Filomena Cariola, Katia De Marco, Martina Lepore Signorile, Andrea Manghisi, Anna Filomena Guglielmi, Simonetta Simonetti, Nicola Laforgia, Vittoria Disciglio, Cristiano Simone
المصدر: International Journal of Molecular Sciences, Vol 24, Iss 24, p 17388 (2023)
مصطلحات موضوعية: GALT, classic galactosemia, novel missense variant, Biology (General), QH301-705.5, Chemistry, QD1-999
وصف الملف: electronic resource
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8دورية أكاديمية
المؤلفون: Synneva Hagen-Lillevik, Joshua Johnson, Kent Lai
المصدر: Journal of Ovarian Research, Vol 15, Iss 1, Pp 1-15 (2022)
مصطلحات موضوعية: Classic Galactosemia, Primary ovarian insufficiency, Eukaryotic initiation factor 2 alpha (eIF2ɑ), Integrated stress, Ovary, Oocyte, Gynecology and obstetrics, RG1-991
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1757-2215
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9دورية أكاديمية
المؤلفون: Hagen-Lillevik, SynnevaAff1, Aff2, Johnson, JoshuaAff3, IDs13048022010492_cor2, Lai, KentAff1, Aff2, IDs13048022010492_cor3
المصدر: Journal of Ovarian Research. 15(1)
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10دورية أكاديمية
المؤلفون: Randall, Jason A.Aff1, IDs13023022022879_cor1, Sutter, Carolyn, Wang, Stella, Bailey, Evan, Raither, Lydia, Perfetti, Riccardo, Shendelman, Shoshana, Burbridge, Claire
المصدر: Orphanet Journal of Rare Diseases. 17(1)