المؤلفون: Nuria Puente-Ruiz, Ian Ellis, Marsel Bregu, Cliff Chen, Heather J. Church, Karen L. Tylee, Shalini Gladston, Richard Hackett, Andrew Oldham, Surinder Virk, Christian Hendriksz, Andrew A.M. Morris, Simon A. Jones, Karolina M. Stepien

المصدر: Molecular Genetics and Metabolism Reports, Vol 37, Iss , Pp 101009- (2023)

مصطلحات موضوعية: Fucosidosis, Angiokeratomas, Learning disability, Long-term outcomes, Natural history, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426923000551; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/e11c82b46a984ceebcbab2acd067099a

المؤلفون: Kiterie M. E. Faller, Alison E. Ridyard, Rodrigo Gutierrez‐Quintana, Angie Rupp, Celia Kun‐Rodrigues, Tatiana Orme, Karen L. Tylee, Heather J. Church, Rita Guerreiro, Jose Bras

المصدر: Journal of Veterinary Internal Medicine, Vol 34, Iss 5, Pp 1813-1824 (2020)

مصطلحات موضوعية: Hurler, iduronidase, lysosomal storage disease, Scheie, Veterinary medicine, SF600-1100

وصف الملف: electronic resource

Relation: https://doaj.org/toc/0891-6640; https://doaj.org/toc/1939-1676

URL الوصول: https://doaj.org/article/a781ad876b6f449c84adc6e3ce5584c3

المؤلفون: Muhammad Ameer Saif, Brian W. Bigger, Karen E Brookes, Jean Mercer, Karen L. Tylee, Heather J. Church, Denise K. Bonney, Simon Jones, J. Ed Wraith, Robert F. Wynn

المصدر: Haematologica, Vol 97, Iss 9 (2012)

مصطلحات موضوعية: Diseases of the blood and blood-forming organs, RC633-647.5

وصف الملف: electronic resource

Relation: https://haematologica.org/article/view/6401; https://doaj.org/toc/0390-6078; https://doaj.org/toc/1592-8721

URL الوصول: https://doaj.org/article/4b0beb106a904a08bfa43632996ccc6a

المؤلفون: Teodoro Jerves Serrano, Jessica Gold, James A. Cooper, Heather J. Church, Karen L. Tylee, Hoi Yee Wu, Sun Young Kim, Karolina M. Stepien

المصدر: Journal of Clinical Medicine, Vol 13, Iss 5, p 1465 (2024)

مصطلحات موضوعية: lysosomal storage diseases, hepatomegaly, splenomegaly, organomegaly, hepatosplenomegaly, biomarkers, Medicine

Relation: https://www.mdpi.com/2077-0383/13/5/1465; https://doaj.org/toc/2077-0383; https://doaj.org/article/b8a40a1af51e45d9821ae56c0ceef124

الاتاحة: https://doi.org/10.3390/jcm13051465
https://doaj.org/article/b8a40a1af51e45d9821ae56c0ceef124

المؤلفون: Elena V. Pavlova, Dorit Lev, Marina Michelson, Keren Yosovich, Hila Gur Michaeli, Nicholas A. Bright, Paul T. Manna, Veronica Kane Dickson, Karen L. Tylee, Heather J. Church, J. Paul Luzio, Timothy M. Cox

المصدر: Human Mutation. 43:2265-2278

مصطلحات موضوعية: Genetics, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ebf531dddae20bafeb98c6c321455e5
https://doi.org/10.1002/humu.24479

المؤلفون: Robert F Wynn, Jane L Kinsella, Rebecca J Holley, Jane Potter, Adrian J. Thrasher, Claire Booth, Karen Buckland, Natalia Izotova, Stewart Rust, Daniel Weisberg, Heather J Church, Karen L Tylee, Kathryn L Brammeier, Helena Lee, Laura Ford, Atusa Sadegholnejat, Simon A Jones, Stuart Ellison, Brian Bigger

المصدر: Blood. 140:1897-1898

مصطلحات موضوعية: Immunology, Cell Biology, Hematology, Biochemistry

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::a74997b32f145f5d1e80dc7d228c8086
https://doi.org/10.1182/blood-2022-168672

المؤلفون: Stephanie A. French, Kathryn L. Brammeier, Simon Jones, Karen L. Tylee, Heather J. Church

المصدر: Molecular Genetics and Metabolism. 138:107106

مصطلحات موضوعية: Endocrinology, Endocrinology, Diabetes and Metabolism, Genetics, Molecular Biology, Biochemistry

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::7886aa0392cacfedfc4b5398447de8f1
https://doi.org/10.1016/j.ymgme.2022.107106

المؤلفون: Heather J. Church, Kathryn L. Brammeier, June Petty, Jean Mercer, Karen L. Tylee, Arunabha Ghosh, Simon A. Jones, Robert F. Wynn

المصدر: Molecular Genetics and Metabolism. 135:S32-S33

مصطلحات موضوعية: Endocrinology, Endocrinology, Diabetes and Metabolism, Genetics, Molecular Biology, Biochemistry

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::16b6e3e5225624d43ce3dcf816e5c36f
https://doi.org/10.1016/j.ymgme.2021.11.069