المؤلفون: Raghuveer Kavarthapu, Hong Lou, Thang Pham, Han Do, Mary E. Soliman, Taylor Badger, Ramya Balasubramanian, Victoria Huyhn, Maria De La Luz Sierra, Jacqueline C. Yano Maher, Veronica Gomez‐Lobo

المصدر: Clinical and Translational Medicine, Vol 14, Iss 10, Pp n/a-n/a (2024)

مصطلحات موضوعية: classic galactosemia, human ovary, premature ovarian insufficiency, primordial follicles, single‐nucleus RNA sequencing, spatial transcriptomics, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2001-1326

URL الوصول: https://doaj.org/article/09cb621325fa446889412815ff492563

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

URL الوصول: https://doaj.org/article/ac73561b1efa45a78205704f4a2e75de

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

Relation: http://www.sciencedirect.com/science/article/pii/S232905012400007X; https://doaj.org/toc/2329-0501

URL الوصول: https://doaj.org/article/d2fda7725fe9434a86e2d785a3e6d368

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

Relation: http://www.sciencedirect.com/science/article/pii/S2214426924000089; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/88374486eb8042e7a1ab271fd2577fbb

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

Relation: http://www.sciencedirect.com/science/article/pii/S2214426924000107; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/6931300d149b424894c7347156a86442

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

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2024.1355962/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/7beddebac074439492e10a7f8e3d6ca8

المؤلفون: Derks, Britt, Kumar, Varsha Shashi, Yadnik, Sai, Panis, Bianca, Bosch, Annet M., Cassiman, David, Janssen, Mirian C. H., Schuhmann, Teresa, Rubio-Gozalbo, M. Estela, Jansma, Bernadette M.

المصدر: Derks , B , Kumar , V S , Yadnik , S , Panis , B , Bosch , A M , Cassiman , D , Janssen , M C H , Schuhmann , T , Rubio-Gozalbo , M E & Jansma , B M 2024 , ' Impact of theta transcranial alternating current stimulation on language production in adult classic galactosemia patients ' , Journal of Inherited Metabolic Disease . https://doi.org/10.1002/jimd.12742

مصطلحات موضوعية: classic galactosemia, event related potentials, language production, late positivity, P300, transcranial alternating current stimulation (tACS), theta time frequency

Relation: https://cris.maastrichtuniversity.nl/en/publications/f7d685ce-6226-42e2-afd4-6eed130072b6

الاتاحة: https://cris.maastrichtuniversity.nl/en/publications/f7d685ce-6226-42e2-afd4-6eed130072b6
https://doi.org/10.1002/jimd.12742

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

URL الوصول: https://doaj.org/article/c9ec7f81f64b48d5b0227b916da17461

المؤلفون: Jason A. Randall, Carolyn Sutter, Stella Wang, Evan Bailey, Lydia Raither, Riccardo Perfetti, Shoshana Shendelman, Claire Burbridge

المصدر: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-10 (2022)

مصطلحات موضوعية: Classic Galactosemia, GALT deficiency, Qualitative interviews, Patient experience, Caregiver experience, Health-related quality of life, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/6b5fca28cd5c46cc9feac38173f94204

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

Relation: https://www.mdpi.com/1422-0067/24/24/17388; https://doaj.org/toc/1661-6596; https://doaj.org/toc/1422-0067; https://doaj.org/article/3fd2a20a98514403a8a3907c11b120ef

الاتاحة: https://doi.org/10.3390/ijms242417388
https://doaj.org/article/3fd2a20a98514403a8a3907c11b120ef

المؤلفون: Synneva Hagen-Lillevik, Joshua Johnson, Anwer Siddiqi, Jes Persinger, Gillian Hale, Kent Lai

المصدر: International Journal of Molecular Sciences; Volume 23; Issue 15; Pages: 8654

مصطلحات موضوعية: Classic Galactosemia, Integrated Stress Response, primary ovarian insufficiency, eukaryotic initiation Factor 2 alpha (eIF2ɑ), myo -inositol, purple sweet potato color, antioxidant, supplements, cerebellum, hepatocyte balloon-cell change

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Pathology, Diagnostics, and Therapeutics; https://dx.doi.org/10.3390/ijms23158654

الاتاحة: https://doi.org/10.3390/ijms23158654

المؤلفون: Merel E. Hermans, Mendy M. Welsink-Karssies, Annet M. Bosch, Kim J. Oostrom, Gert J. Geurtsen

المصدر: Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-11 (2019)

مصطلحات موضوعية: Classic Galactosemia, GALT deficiency, Neuropsychology, Neuropsychological functioning, Cognition, Critical review, Medicine

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13023-019-1215-1; https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/10269b5505884ed7bbaccf81863181b8

المؤلفون: Daffodil M. Canson, Catherine Lynn T. Silao, Salvador Eugenio C. Caoili

المصدر: JIMD Reports, Vol 48, Iss 1, Pp 60-66 (2019)

مصطلحات موضوعية: classic galactosemia, galactose‐1‐phosphate uridylyltransferase, GALT deficiency, HeLa‐based cell‐free expression system, missense variants, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2192-8312

URL الوصول: https://doaj.org/article/7f122b0653b34e97932c372ad6e444ea

المؤلفون: Armstrong-Heimsoth, Amy, Monroe, Abbey, Cupp, Camryn, Potter, Nancy, VanDam, Mark, Peter, Beate

المصدر: J Occup Ther Sch Early Interv ; ISSN:1941-1251 ; Volume:17 ; Issue:2

مصطلحات موضوعية: classic galactosemia, early intervention, prevention, school-based therapy, sensory processing

Relation: https://doi.org/10.1080/19411243.2023.2192206; https://pubmed.ncbi.nlm.nih.gov/39185447; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11343080/

الاتاحة: https://doi.org/10.1080/19411243.2023.2192206
https://pubmed.ncbi.nlm.nih.gov/39185447
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11343080/

المؤلفون: Delnoy, B., Coelho, A.I., Rubio-Gozalbo, M.E.

المصدر: Delnoy , B , Coelho , A I & Rubio-Gozalbo , M E 2021 , ' Current and Future Treatments for Classic Galactosemia ' , Journal of Personalized Medicine , vol. 11 , no. 2 , 75 . https://doi.org/10.3390/jpm11020075

مصطلحات موضوعية: babble boot camp (bbc), classic galactosemia, galactose 1-phosphate uridylyltransferase (galt), galactosemia type 1, gene therapy, mrna therapy, pharmacological chaperones, transcranial alternating current stimulation (tacs)

الاتاحة: https://cris.maastrichtuniversity.nl/en/publications/a27324e8-d91b-41fd-99e9-f960b34618a2
https://doi.org/10.3390/jpm11020075

المؤلفون: Li Liu (75607), Manshu Tang (2171179), Rajan Pragani (105058), Frank G. Whitby (3590531), Ya-qin Zhang (11403266), Bijina Balakrishnan (11403269), Yuhong Fang (3032253), Surendra Karavadhi (6051887), Dingyin Tao (488326), Christopher A. LeClair (2201161), Matthew D. Hall (316516), Juan J. Marugan (191299), Matthew Boxer (105062), Min Shen (68726), Christopher P. Hill (338170), Kent Lai (2171176), Samarjit Patnaik (1878463)

مصطلحات موضوعية: Biochemistry, Medicine, Molecular Biology, Pharmacology, Biotechnology, Cancer, Infectious Diseases, Plant Biology, Chemical Sciences not elsewhere classified, previous work identified, potent biochemical inhibition, pharmacokinetic properties suitable, low micromolar concentrations, chronic complications associated, yielded novel analogs, 100 nm ), treating classic galactosemia, rare disease caused, 50 , 1 phosphate uridylyltransferase, 1 phosphate, novel strategy, galt ), rodent models, optimization campaign, major cause, lead compounds, inhibiting galactokinase, inherited deficiency, derived cells

Relation: https://figshare.com/articles/journal_contribution/Structure-Based_Optimization_of_Small_Molecule_Human_Galactokinase_Inhibitors/16583588

الاتاحة: https://doi.org/10.1021/acs.jmedchem.1c00945.s001

المؤلفون: Sabrina R. Mackinnon (10313090), Tobias Krojer (1385454), William R. Foster (1744990), Laura Diaz-Saez (10313093), Manshu Tang (2171179), Kilian V. M. Huber (7500827), Frank von Delft (7879808), Kent Lai (2171176), Paul E. Brennan (1290474), Gustavo Arruda Bezerra (141145), Wyatt W. Yue (1317096)

مصطلحات موضوعية: Biochemistry, Pharmacology, Ecology, Cancer, Hematology, Environmental Sciences not elsewhere classified, Biological Sciences not elsewhere classified, Chemical Sciences not elsewhere classified, galactose -1-phosphate, uncharacterized allosteric sites, Classic Galactosemia Classic galact., hGALK 1, fragment, ATP binding site, Galactokinase 1 Inhibitors, GALT, hGALK 1 inhibitors, hGALK 1 crystals, galactose -1-phosphate uridylyltran., hGALK 1 homologues

Relation: https://figshare.com/articles/journal_contribution/Fragment_Screening_Reveals_Starting_Points_for_Rational_Design_of_Galactokinase_1_Inhibitors_to_Treat_Classic_Galactosemia/14225909

الاتاحة: https://doi.org/10.1021/acschembio.0c00498.s001

المؤلفون: Anna Verdino, Gaetano D’Urso, Carmen Tammone, Bernardina Scafuri, Lucrezia Catapano, Anna Marabotti

المصدر: Molecules; Volume 26; Issue 19; Pages: 6061

مصطلحات موضوعية: classic galactosemia, galactose-1-phosphate uridyltransferase, rare diseases, pharmacological chaperones

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Medicinal Chemistry; https://dx.doi.org/10.3390/molecules26196061

الاتاحة: https://doi.org/10.3390/molecules26196061

المؤلفون: Anna Verdino, Gaetano D’Urso, Carmen Tammone, Bernardina Scafuri, Anna Marabotti

المصدر: Molecules; Volume 26; Issue 19; Pages: 5941

مصطلحات موضوعية: classic galactosemia, galactose-1-phosphate uridylyltransferase, rare diseases, galactose metabolism, molecular dynamics simulations

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Medicinal Chemistry; https://dx.doi.org/10.3390/molecules26195941

الاتاحة: https://doi.org/10.3390/molecules26195941

المؤلفون: Minela Haskovic, Britt Derks, Liesbeth van der Ploeg, Jorn Trommelen, Jean Nyakayiru, Luc J. C. van Loon, Sabrina Mackinnon, Wyatt W. Yue, Roy W. A. Peake, Li Zha, Didem Demirbas, Wanshu Qi, Xiaoping Huang, Gerard T. Berry, Jelle Achten, Jörgen Bierau, M. Estela Rubio-Gozalbo, Ana I. Coelho

المصدر: Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-8 (2018)

مصطلحات موضوعية: Classic galactosemia, Inherited metabolic disorder, Galactose metabolism, Arginine, Amino acid supplementation, Chemical chaperones, Medicine

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13023-018-0954-8; https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/14f787f239734944a06747ee7ac1581c