المؤلفون: Hans J.C.T. Wessels, Purva Kulkarni, Maurice van Dael, Anouk Suppers, Esther Willems, Fokje Zijlstra, Else Kragt, Jolein Gloerich, Pierre-Olivier Schmit, Stuart Pengelley, Kristina Marx, Alain J. van Gool, Dirk J. Lefeber

المصدر: Journal of Advanced Research, Vol 61, Iss , Pp 179-192 (2024)

مصطلحات موضوعية: Glycosylation, Glycoproteomics, Blood plasma, Congenital disorders of glycosylation, Clinical applications, Medicine (General), R5-920, Science (General), Q1-390

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2090123223002394Test; https://doaj.org/toc/2090-1232Test

الوصول الحر: https://doaj.org/article/047479ae6a8b4ca1b4863cf855f7ee50Test

المؤلفون: Dang, An N, Chang, Irene J, Jiang, Xutian, Wolfe, Lynne A, Ng, Bobby G, Lam, Christina, Schnur, Rhonda E, Allis, Katrina, Hansikova, Hana, Ondruskova, Nina, O'Connor, Shawn D, Sanchez‐Valle, Amarilis, Vollo, Arve, Wang, Raymond Y, Wolfenson, Zoe, Perreault, John, Ory, Daniel S, Freeze, Hudson H, Merritt, J Lawrence, Porter, Forbes D

المصدر: Journal of Inherited Metabolic Disease. 46(2)

مصطلحات موضوعية: Biochemistry and Cell Biology, Biological Sciences, Clinical Research, Pediatric, Digestive Diseases, Liver Disease, Infant, Child, Humans, Oxysterols, Congenital Disorders of Glycosylation, Niemann-Pick Disease, Type C, Glycosylation, Bile Acids and Salts, Hydrolases, Vacuolar Proton-Translocating ATPases, ATP6AP1, bile acids, congenital disorders of glycosylation, Niemann-pick type C, N-palmitoyl-O-phosphocholineserine, oxysterols, Clinical Sciences, Genetics & Heredity, Genetics, Clinical sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/39n7s551Test

المؤلفون: Roman Sakson, Lars Beedgen, Patrick Bernhard, K. Merve Alp, Nicole Lübbehusen, Ralph Röth, Beate Niesler, Marcin Luzarowski, Olga Shevchuk, Matthias P. Mayer, Christian Thiel, Thomas Ruppert

المصدر: International Journal of Molecular Sciences, Vol 25, Iss 2, p 1191 (2024)

مصطلحات موضوعية: glycosylation, proteomics, endoplasmic reticulum, congenital disorders of glycosylation, MRM, nCounter, Biology (General), QH301-705.5, Chemistry, QD1-999

العلاقة: https://www.mdpi.com/1422-0067/25/2/1191Test; https://doaj.org/toc/1661-6596Test; https://doaj.org/toc/1422-0067Test; https://doaj.org/article/dd746080971942469ec99d2e6108f5b4Test

الإتاحة: https://doi.org/10.3390/ijms25021191Test
https://doaj.org/article/dd746080971942469ec99d2e6108f5b4Test

المؤلفون: Ng, Bobby G, Eklund, Erik A, Shiryaev, Sergey A, Dong, Yin Y, Abbott, Mary‐Alice, Asteggiano, Carla, Bamshad, Michael J, Barr, Eileen, Bernstein, Jonathan A, Chelakkadan, Shabeed, Christodoulou, John, Chung, Wendy K, Ciliberto, Michael A, Cousin, Janice, Gardiner, Fiona, Ghosh, Suman, Graf, William D, Grunewald, Stephanie, Hammond, Katherine, Hauser, Natalie S, Hoganson, George E, Houck, Kimberly M, Kohler, Jennefer N, Morava, Eva, Larson, Austin A, Liu, Pengfei, Madathil, Sujana, McCormack, Colleen, Meeks, Naomi JL, Miller, Rebecca, Monaghan, Kristin G, Nickerson, Deborah A, Palculict, Timothy Blake, Papazoglu, Gabriela Magali, Pletcher, Beth A, Scheffer, Ingrid E, Schenone, Andrea Beatriz, Schnur, Rhonda E, Si, Yue, Rowe, Leah J, Russi, Alvaro H Serrano, Russo, Rossana Sanchez, Thabet, Farouq, Tuite, Allysa, Villanueva, María Mercedes, Wang, Raymond Y, Webster, Richard I, Wilson, Dorcas, Zalan, Alice, Network, University of Washington Center for Mendelian Genomics Undiagnosed Diseases, Wolfe, Lynne A, Rosenfeld, Jill A, Rhodes, Lindsay, Freeze, Hudson H

المصدر: Journal of Inherited Metabolic Disease. 43(6)

مصطلحات موضوعية: Pediatric, Brain Disorders, Neurosciences, Neurodegenerative, Epilepsy, Biomarkers, Child, Preschool, Congenital Disorders of Glycosylation, Diet, Ketogenic, Female, Glycosylation, Humans, Infant, Male, Mutation, N-Acetylglucosaminyltransferases, Spasms, Infantile, Transferrin, congenital disorders of glycosylation, epilepsy, N-linked glycosylation, whole exome sequencing, Undiagnosed Diseases Network, University of Washington Center for Mendelian Genomics, Clinical Sciences, Genetics & Heredity

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/3x16x320Test

المؤلفون: Pereira, Beatriz Luís

المساهمون: Videira, Paula, Barbosa, Mariana, RUN

مصطلحات موضوعية: Glycosylation, Sialic acid, Congenital Disorders of Glycosylation, GNE myopathy, Biomarkers, Prodrugs, Domínio/Área Científica::Engenharia e Tecnologia::Outras Engenharias e Tecnologias

وصف الملف: application/pdf

الإتاحة: http://hdl.handle.net/10362/154801Test

المؤلفون: Park, Julien H., Mealer, Robert G., Elias, Abdallah F., Hoffmann, Susanne, Grueneberg, Marianne, Biskup, Saskia, Fobker, Manfred, Haven, Jaclyn, Mangels, Ute, Reunert, Janine, Rust, Stephan, Schoof, Jonathan, Schwanke, Corbin, Smoller, Jordan W., Cummings, Richard D., Marquardt, Thorsten

المصدر: Journal of Inherited Metabolic Disease. 43(6):1370-1381

مصطلحات موضوعية: congenital disorders of glycosylation, glycosylation, MALDI-TOF MS, manganese

وصف الملف: electronic

الوصول الحر: https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-175818Test
https://doi.org/10.1002/jimd.12306Test
https://umu.diva-portal.org/smash/get/diva2:1475562/FULLTEXT02.pdfTest

المؤلفون: Haanpää, Maria, Ng, Bobby, Gallant, Natalie, Freeze, Hudson, Muller, Eric, Brown, Candida, Kimonis, Virginia, Singh, Kathryn

المصدر: American Journal of Medical Genetics Part A. 179(3)

مصطلحات موضوعية: ALG11, CDG, GP130, LLO, intellectual disability, Adolescent, Alleles, Biomarkers, Child, Preschool, Congenital Disorders of Glycosylation, Electroencephalography, Female, Genetic Association Studies, Genetic Predisposition to Disease, Glycosylation, Humans, Magnetic Resonance Imaging, Male, Mannosyltransferases, Mutation, Pedigree, Phenotype, Tomography, X-Ray Computed

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/258456bnTest

المؤلفون: Rabaça, João Pedro Amorim

المساهمون: Videira, Paula, Silva, Zélia, RUN

مصطلحات موضوعية: Glycosylation, dendritic cells, sialic acids, sialidase, Congenital Disorders of Glycosylation, PMM2-CDG, Domínio/Área Científica::Engenharia e Tecnologia::Outras Engenharias e Tecnologias

وصف الملف: application/pdf

الإتاحة: http://hdl.handle.net/10362/132385Test

المؤلفون: Larsen, Ida Signe Bohse, Povolo, Lorenzo, Zhou, Luping, Tian, Weihua, Mygind, Kasper Johansen, Hintze, John, Jiang, Chen, Hartill, Verity, Prescott, Katrina, Johnson, Colin A., Mullegama, Sureni V., McConkie-Rosell, Allyn, McDonald, Marie, Hansen, Lars, Vakhrushev, Sergey Y., Schjoldager, Katrine T., Clausen, Henrik, Worzfeld, Thomas, Joshi, Hiren J., Halim, Adnan

المصدر: Larsen , I S B , Povolo , L , Zhou , L , Tian , W , Mygind , K J , Hintze , J , Jiang , C , Hartill , V , Prescott , K , Johnson , C A , Mullegama , S V , McConkie-Rosell , A , McDonald , M , Hansen , L , Vakhrushev , S Y , Schjoldager , K T , Clausen , H , Worzfeld , T , Joshi , H J & Halim , A 2023 , ' The SHDRA syndrome-associated gene TMEM260 encodes a protein-specific O-mannosyltransferase ....

مصطلحات موضوعية: congenital disorders of glycosylation, glycoproteomics, glycosylation, O-mannosylation, plexin

وصف الملف: application/pdf

الإتاحة: https://doi.org/10.1073/pnas.2302584120Test
https://curis.ku.dk/portal/da/publications/the-shdra-syndromeassociated-gene-tmem260-encodes-a-proteinspecific-omannosyltransferaseTest(37ed9483-7df3-4710-afce-da630b828289).html
https://curis.ku.dk/ws/files/347698503/pnas.2302584120.pdfTest

المؤلفون: Milena Greczan, Dariusz Rokicki, Dorota Wesół-Kucharska, Magdalena Kaczor, Agata Rawiak, Aleksandra Jezela-Stanek

المصدر: Frontiers in Genetics, Vol 13 (2022)

مصطلحات موضوعية: CDG (congenital disorders of glycosylation), glycosylation, effusion, dysmorphia, thrombocytopenia, hydrops fetalis, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2022.1019283/fullTest; https://doaj.org/toc/1664-8021Test

الوصول الحر: https://doaj.org/article/01e4bffceeae414797afde56690a9d68Test